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American Journal of Medical Genetics Part A - 2018

414 articles | Last updated: 2025-12-03 14:12:55
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T A T A T A T A
Cover Image, Volume 176A, Number 12, December 2018
Table of Contents, Volume 176A, Number 12, December 2018
Publication schedule for 2018
In This Issue
Thalidomide Teratogenic Effects Linked to Degradation of SALL4: After 60 years, researchers have now shed light on the mechanism underlying thalidomide's devastating teratogenic effects
Blood Metabolites May Help Identify Children With Autism: A panel of blood metabolites may be able to identify some children at risk for autism spectrum disorder, which is a step towards developing a
Simpson–Golabi–Behmel syndrome in a 39‐year‐old male patient with suspected acromegaly—A case study
Clinical diversity of <i>MYH7</i>‐related cardiomyopathies: Insights into genotype–phenotype correlations
Clinical identification of feeding and swallowing disorders in 0–6 month old infants with Down syndrome
Schuurs‐Hoeijmakers syndrome in two patients from Japan ✓ ✓ Western populations
Parents' perceptions of functional abilities in people with Down syndrome
Clinical spectrum of <i>BCS1L</i> Mitopathies and their underlying structural relationships
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome
Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the <i>ERF</i> gene
Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?
Recurrent mosaic <i>MTOR</i> c.5930C &gt; T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel <i>KMT2D</i> mutation
Many newborns in level IV NICUs are eligible for rapid DNA sequencing
The human phenotype of ornithine decarboxylase superactivity: A new syndrome
Growth curves for French people with Down syndrome from birth to 20 years of age ✓ ✓ French; typical French population; French children and adolescents
Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study
Distinct impacts of bi‐allelic <i>WNT10A</i> mutations on the permanent and primary dentitions in odonto‐onycho‐dermal dysplasia
Contributing factors of mortality in Prader–Willi syndrome
Cenani–Lenz syndrome and other related syndactyly disorders due to variants in <i>LRP4</i>, <i>GREM1</i>/<i>FMN1</i>, and <i>APC</i>: Insight into the pathogenesis and the relationship to polyposis th
Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers–Danlos syndrome: A randomized controlled trial
Novel truncating variants expand the phenotypic spectrum of <i>KAT6B</i>‐related disorders
Clinical characterization of a<i>PUF60</i>variant in a patient with Dubowitz‐like syndrome
SOFT syndrome in a patient from Chile
Patients with SATB2‐associated syndrome exhibiting multiple odontomas
Philip D. Pallister of Montana
Comparison of Aberrant Behavior Checklist profiles across Prader–Willi syndrome, Down syndrome, and autism spectrum disorder
GAPO syndrome in seven new patients: Identification of five novel <i>ANTXR1</i> mutations including the first large intragenic deletion
<i>LTBP2</i>‐related “Marfan‐like” phenotype in two Roma/Gypsy subjects with the <i>LTBP2</i> homozygous p.R299X variant ✓ ✓ Roma/Gypsy
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for <i>LBR</i> pathogenic variants: An instructive example of one gene‐multiple phenotypes ✓ ✓ Moroccan family
<i>SCAPER</i>‐associated nonsyndromic autosomal recessive retinitis pigmentosa
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder
Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in <i>FKBP14</i>
Gynecologic health in cartilage‐hair hypoplasia: A survey of 26 adult females
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent <i>TMCO1</i> pathogenic variant ✓ ✓ ✓ Pakistani background; Amish population; Scottish
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment ✓ ✓ across all ethnic groups; Dutch
Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype
Newborn screening for Prader–Willi syndrome is feasible: Early diagnosis for better outcomes
Identification of pathogenic <i>YY1AP1</i> splice variants in siblings with Grange syndrome by whole exome sequencing
Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features
Associated anomalies in cases with anorectal anomalies
COMMENTARY—The Saul–Wilson syndrome from its early days until now
<i>GPR126</i>: A novel candidate gene implicated in autosomal recessive intellectual disability
A novel autosomal dominant mutation in <i>SOX18</i> resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome
A case of <i>YY1</i>‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis
High risk of spontaneous preterm birth among infants with gastroschisis
A homozygous <i>MITF</i> mutation leads to familial Waardenburg syndrome type 4 ✓ ✓ Chinese Han family
The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the <i>KMT2A</i> gene
An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
A biallelic truncating <i>AEBP1</i> variant causes connective tissue disorder in two siblings
Novel variants in <i>SPTAN1</i> without epilepsy: An expansion of the phenotype
Publication schedule for 2018
Opitz Award Winner Defines Down Syndrome in Diverse Populations: Research will help clinicians identify patients with Down syndrome in non‐European populations ✓ non‐European populations
In This Issue
Cover Image, Volume 176A, Number 11, November 2018
Table of Contents, Volume 176A, Number 11, November 2018
New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior‐posterior gradient with cerebellar hypoplasia, thinnin
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
Malan syndrome: Extension of genotype and phenotype spectrum
Genotype and phenotype correlations for <i>SHANK3</i> de novo mutations in neurodevelopmental disorders
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
Prenatal and postnatal presentation of <i>PRMT7</i> related syndrome: Expanding the phenotypic manifestations
Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel <i>TGFBR1</i> variant
Novel truncating mutation in <i>TENM3</i> in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy
The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders
Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
Unmasking familial CPX by WES and identification of novel clinical signs
Atypical presentation of pediatric <i>BRAF</i> RASopathy with acute encephalopathy
First reported adult patient with TARP syndrome: A case report
Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of <i>SEC24D</i>
Ablepharon and craniosynostosis in a patient with a localized <i>TWIST1</i> basic domain substitution
A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome
Extension of the mutational and clinical spectrum of <i>SOX2</i> related disorders: Description of six new cases and a novel association with suprasellar teratoma
Autosomal recessive Stickler syndrome resulting from a <i>COL9A3</i> mutation
Two unrelated individuals carrying rare mosaic deletions in <i>TCF4</i> gene
Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes
An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in <i>ADAMTS3</i>
Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent <i>BCOR</i> variant p.Pro85Leu
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients
Gene‐targeted deletion in mice of the <i>Ets</i>−<i>1</i> transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development
In This Issue
Acanthosis nigricans in achondroplasia ✓
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia ✓
Table of Contents, Volume 176A, Number 10, October 2018
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
Molecular genetics of 22q11.2 deletion syndrome
Cover Image, Volume 176A, Number 10, October 2018
Publication schedule for 2018
Two patients with <i>FOXF1</i> mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
Club foot in association with the 22q11.2 deletion syndrome: An observational study
22q11.2 deletion syndrome: A tiny piece leading to a big picture
Providers Unprepared for Interpreting Unsolicited Genomic Results: Direct‐to‐consumer testing has increased the number of individuals getting genetic testing in the absence of medical concerns yet tur
Novel Gene‐Editing Technique Cures β‐Thalassemia in Utero: A novel peptide nucleic acid‐based gene–editing technique using a nanoparticle delivery system seemingly cured beta thalassemia in fetal mice
Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morpho ✓ ✓ Czech; ethnically matched controls
Metabolic responses to walking in children with Prader‐Willi syndrome on growth hormone replacement therapy
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel <i>HPS6</i> missense variant ✓
Neurologic challenges in 22q11.2 deletion syndrome
<i>TBL1XR1</i> mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
Developmental delay and failure to thrive associated with a loss‐of‐function variant in <i>WHSC1 (NSD2)</i> ✓ ✓ Greek (in the phrase 'Greek warrior helmet' describing facial appearance)
Intellectual disability due to monoallelic variant in <i>GATAD2B</i> and mosaicism in unaffected parent
Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome
<i>PRICKLE1</i>‐related early onset epileptic encephalopathy
A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to <i>NOTCH2</i> mutation
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in <i>SLC25A24</i> ✓ ✓ Spanish
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
Schaaf‐Yang syndrome overview: Report of 78 individuals
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy
Mutations in the tRNA methyltransferase 1 gene <i>TRMT1</i> cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability
Basan gets a new fingerprint: Mutations in the skin‐specific isoform of <i>SMARCAD1</i> cause ectodermal dysplasia syndromes with adermatoglyphia
Mosaic <i>KRAS</i> mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension
Haploinsufficiency of <i>NCOR1</i> associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
The characteristics of temper outbursts in Prader–Willi syndrome
An additional patient with a homozygous mutation in <i>DCPS</i> contributes to the delination of Al‐Raqad syndrome
Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
In memoriam James L. German, a pioneer in early human genetic research
Preliminary observations of mitochondrial dysfunction in Prader–Willi syndrome
Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in <i>IFITM5</i>
A de novo in‐frame deletion of <i>CASK</i> gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient
Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature
Copy number variations in a population with prune belly syndrome
Copy number variants in hypoplastic right heart syndrome
Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, <i>EXOC6B</i> type
Congenital lumbar hernia–A feature of diabetic embryopathy?
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
Multicenter study of mortality in achondroplasia
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome
Further delineation of the clinical spectrum of de novo <i>TRIM8</i> truncating mutations
A mosaic intragenic microduplication of <i>LAMA1</i> and a constitutional 18p11.32 microduplication in a patient with <i>keratosis pilaris</i> and intellectual disability
Phenotypic and molecular insights into <i>PQBP1</i>‐related intellectual disability ✓ ✓ Egyptian descent
22q and two: 22q11.2 deletion syndrome and coexisting conditions
Small 4p16.3 deletions: Three additional patients and review of the literature
Extending the <i>ALDH18A1</i> clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis
Is <i>PNPT1</i>‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of <i>PNPT1</i>‐related disorders
Identification of novel <i>PIEZO1</i> variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis
The effect of steroid treatment on weight in nonambulatory males with Duchenne muscular dystrophy
Table of Contents, Volume 176A, Number 9, September 2018
Publication schedule for 2018
Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1
Mendelian Disease Genes More Prone to Copy Number Changes Than Previously Thought: Clinically relevant copy number variants are distinct from those that contribute to normal variation in human disease
Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features ✓
In This Issue
Cover Image, Volume 176A, Number 9, September 2018
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort
Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis‐II nondisjunction at younger age and without any detectable recombination error
USP48 May Be Potential Therapeutic Target in Fanconi Anemia: Inactivation of USP48 reduced chromosomal instability of Fanconi anemia defective cells and highlights a role for this enzyme in controllin
Heterozygous <i>WNT1</i> variant causing a variable bone phenotype
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome ✓ ✓ Italian patient
The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a <i>MAGEL2</i> mutation
Dietary intake in youth with prader‐willi syndrome
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses <i>TCF20</i> and <i>TNFRSF13C</i>
Warsaw breakage syndrome: Further clinical and genetic delineation
Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey
Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
<i>LAMP2</i> exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
A novel <i>ASPH</i> variant extends the phenotype of Shawaf‐Traboulsi syndrome
A novel mutation in <i>CDH11</i>, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome
Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature
Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐<i>CHST14</i>)
Ocular manifestations of Emanuel syndrome
Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease
Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability
Isolated dentinogenesis imperfecta with glass‐like enamel caused by <i>COL1A2</i> mutation
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Phenotypic diversity of patients diagnosed with VACTERL association
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Intrafamilial clinical variability in four families with incontinentia pigmenti
Novel compound heterozygous <i>EPG5</i> mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome ✓ ✓ Japanese
Silver Russel syndrome in an aboriginal patient from Australia ✓ ✓ Australian Aboriginal
Multilineage <i>ACTB</i> mutation in a patient with fibro‐osseous maxillary lesion and pilocytic astrocytoma
<i>TRPV6</i> compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
Familial dominant epilepsy and mild pachygyria associated with a constitutional <i>LIS1</i> mutation
In This Issue
Cover Image, Volume 176A, Number 8, August 2018
Table of Contents, Volume 176A, Number 8, August 2018
Publication schedule for 2018
Formate Supplementation May Prevent Some Neural Tube Defects that Prove Resistant to Folic Acid: Supplementation with formate rescued normal neural tube closure in more than three quarters of the embr
Nucleic Acid–Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small‐molecule drugs that can selectively bind RNA and modulate pre‐mRNA splicing have pot
Biallelic deletions of the Waardenburg II syndrome gene, <i>SOX10</i>, cause a recognizable arthrogryposis syndrome
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo ✓ ✓ ✓ African patients; Central African country; African patients from Africa
Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in <i>ANKRD11</i>
A novel <i>AXIN2</i> gene mutation in sagittal synostosis ✓
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including <i>MYCN</i>
Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort ✓ ✓ European cohort
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period ✓ ✓ Asian populations; Taiwanese population
Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009
Behavioral and psychological features in girls and women with triple‐X syndrome
Studying Down syndrome recognition probabilities in Thai children with de‐identified computer‐aided facial analysis ✓ ✓ ✓ Asian; Thai; ethnicity
Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome ✓ ✓ Indian
An Additional Individual with a <i>De Novo</i> Variant in <i>Myelin Regulatory Factor</i> (<i>MYRF)</i> with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pi
Possible Congenital Zika Syndrome in Older Children Due to Earlier Circulation of Zika Virus
1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations
Change in Prevalence of Orofacial Clefts in California between 1987 and 2010 ✓ ✓ "race/ethnic groups", "race/ethnicity", "ethnic groups"
Characterization of a severe case of <i>PIK3CA</i>‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of <i>PIK3CA</i> sequencing in 22 patients
Early inspirations from times gone by
Pulmonary hypertension in patients with 9q34.3 microdeletion‐associated Kleefstra syndrome
Cole‐Carpenter syndrome in a patient from Thailand ✓ ✓ ✓ Asian
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers–Danlos syndrome and related disorders
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome
De novo <i>KCNA1</i> variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent <i>KCNA2</i> variants
A recognizable phenotype related to 19p13.12 microdeletion
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
A 69‐year‐old woman with Coffin–Siris syndrome
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937–2018)
Eduardo E. Castilla (1933–2017): El grande TROESMA*
A case of severe <i>TBCE</i>‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Is exon 8 the most critical or the only dispensable exon of the <i>VCAN</i> gene? Insights into <i>VCAN</i> variants and clinical spectrum of Wagner syndrome
<i>De novo</i> missense variants in <i>MEIS2</i> recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
A novel <i>MYT1L</i> mutation in a patient with severe early‐onset obesity and intellectual disability
Health supervision for people with Bloom syndrome
Reassignment of <i>HMX1</i> indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes
A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene <i>THSD1</i> is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in f
Novel mosaic <i>SRY</i> gene deletions in three newborn males with variable genitourinary malformations
In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”
Cover Image, Volume 176A, Number 7, July 2018
In This Issue
Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome
A novel <i>FBXO28</i> frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype
Publication schedule for 2018
Table of Contents, Volume 176A, Number 7, July 2018
Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame <i>DSP</i> nonsense mutation ✓
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool
Ocular albinism with infertility and late‐onset sensorineural hearing loss
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
Novel phenotype of achondroplasia due to biallelic<i>FGFR3</i>pathogenic variants ✓ ✓ Japanese
Introducing in <i>AJMG Part A</i>: Case reports in diverse populations
Molecular Signature at Birth Associated With Genetic Burden for Autism
In this issue
Table of Contents, Volume 176A, Number 6, June 2018
Cover Image, Volume 176A, Number 6, June 2018
Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasi
Publication schedule for 2018
Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linke
<i>MAP2K2</i> mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease
Current clinical evidence does not support a link between <i>TBL1XR1</i> and Rett syndrome: Description of one patient with Rett features and a novel mutation in <i>TBL1XR1</i>, and a review of <i>TBL
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
Piepkorn type of osteochondrodysplasia: Defining the severe end of <i>FLNB</i>‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit
The first reported case of an inherited pathogenic <i>CHD2</i> variant in a clinically affected mother and daughter
Novel <i>PLS3</i> variants in X‐linked osteoporosis: Exploring bone material properties
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed <i>UBE3A</i> isoform
<i>KIF16B</i> is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome
Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome
Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families
Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval
Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association
Familial autosomal dominant severe ankyloglossia with tooth abnormalities
Recessive variants of <i>MuSK</i> are associated with late onset CMS and predominant limb girdle weakness
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to <i>BRAF</i> mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?
Loss of function <i>IFT27</i> variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
Atypical presentations associated with non‐polyalanine repeat <i>PHOX2B</i> mutations
A missense mutation in <i>EBF2</i> was segregated with imperforate anus in a family across three generations ✓ ✓ Korean
Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
A German‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs
Functional independence of Taiwanese children with Prader–Willi syndrome
Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions
Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases
The phenotypic spectrum of Xia‐Gibbs syndrome
Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting
Delayed peak response of cortisol to insulin tolerance test in patients with Prader–Willi syndrome
Arno G. Motulsky, 1923–2018, Luck and Service
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
X‐linked intellectual disability update 2017
Mutations in <i>SZT2</i> result in early‐onset epileptic encephalopathy and leukoencephalopathy
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous <i>RTEL1</i> and <i>TPH1</i> variants
The ontogeny of Robin sequence
An assessment of health, social, communication, and daily living skills of adults with Down syndrome
Table of Contents, Volume 176A, Number 5, May 2018
Publication schedule for 2018
In this issue
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
The Society for Craniofacial Genetics and Developmental Biology 40th annual meeting
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency
Identification of a novel homozygous <i>ALX4</i> mutation in two unrelated patients with frontonasal dysplasia type‐2
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in <i>WDR45</i> in NBIA patient
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel <i>SOX10</i> mutation
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in <i>PAX1</i> gene
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival
Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida
Two novel cases expanding the phenotype of <i>SETD2</i>‐related overgrowth syndrome
Homozygous <i>DMRT2</i> variant associates with severe rib malformations in a newborn
Williams–Beuren syndrome in diverse populations ✓ ✓ ✓ ✓ European descent; Asian, African, Caucasian, and Latin American
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
Low‐level expression of <i>EPG5</i> leads to an attenuated Vici syndrome phenotype
A novel homozygous mutation in the <i>SLCO2A1</i> gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation
Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome
Worries and needs of adults and parents of adults with neurofibromatosis type 1
Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome
Philtrum length and intercommissural distance measurements at mixed dentition period
Expanding the molecular basis and phenotypic spectrum of <i>ZDHHC9</i>‐associated X‐linked intellectual disability
Novel de novo <i>ZBTB20</i> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
Bohring‐Opitz syndrome caused by an <i>ASXL1</i> mutation inherited from a germline mosaic mother
A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in <i>PNPLA8</i> encoding calcium‐independent phospholipase A2γ
Cover Image, Volume 176A, Number 5, May 2018
Whole‐Exome Sequencing and Chromosomal Microarray Analysis Feasible and Cost‐Effective in an Underserved Population: Whole‐exome sequencing and chromosomal microarray analysis are more expensive up fr
CDC42 Mutations Linked to Multiple Heterogeneous Phenotypes: Proper CDC42 function needed for an array of developmental processes, and new data show that different classes of mutations can cause a het
Clinical spectrum of <i>KIAA2022</i> pathogenic variants in males: Case report of two boys with <i>KIAA2022</i> pathogenic variants and review of the literature
A novel <i>ECEL1</i> mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long‐term outcome
Choroid plexus hyperplasia and chromosome 9p gains
A novel splice site variant in <i>ITPR1</i> gene underlying recessive Gillespie syndrome
Three patients with DeSanto‐Shinawi syndrome: Further phenotypic delineation
Novel de novo pathogenic variant in the <i>NR2F2</i> gene in a boy with congenital heart defect and dysmorphic features ✓
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers
Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition
Barakat syndrome revisited
Associations between laterality of orofacial clefts and medical and academic outcomes
Cover Image, Volume 176A, Number 4, April 2018
Table of Contents, Volume 176A, Number 4, April 2018
Patients Express Satisfaction, Understanding of Whole‐Genome Sequencing: In primary care and cardiology, patients were generally satisfied with their physicians' communication of WGS results, but expe
Publication schedule for 2018
In this issue
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
Low serum fatty acid levels in pregnancies with fetal gastroschisis: A prospective study
First‐year growth in children with Noonan syndrome: Associated with feeding problems?
Isosorbide dinitrate in nephronophthisis treatment
DNA Methylation Possible Adjunct to Screening for Neurodevelopmental Syndromes: DNA methylation signatures were identified for several neurodevelopmental Mendelian disorders, and hold promise as a sup
Autosomal dominant Robinow syndrome associated with a novel <i>DVL3</i> splice mutation
A homozygous <i>TTN</i> gene variant associated with lethal congenital contracture syndrome
Age and ASD symptoms in Costello syndrome
Newly described recessive <i>MYH11</i> disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes
Three novel <i>GJB2</i> (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss
A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males
Biallelic loss‐of‐function <i>WNT5A</i> mutations in an infant with severe and atypical manifestations of Robinow syndrome
Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome ✓ Non‐European ethnicity; non‐European ancestry
Novel <i>RSPO1</i> mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype
<i>FMR1</i> premutation frequency in a large, ethnically diverse population referred for carrier testing ✓
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency ✓ ✓ Irish ancestry; Pakistani; Irish Traveler; Canadian
The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review
Further delineation of an entity caused by <i>CREBBP</i> and <i>EP300</i> mutations but not resembling Rubinstein–Taybi syndrome
Table of Contents, Volume 176A, Number 3, March 2018
Publication schedule for 2018
In this issue
Making a (cautious) case for expanding reproductive genetic carrier screens
Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
Cover Image, Volume 176A, Number 3, March 2018
Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
A biallelic <i>ANTXR1</i> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review
A novel homozygous <i>AP4B1</i> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies ✓ ✓ Pakistani
Non‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly
The art and science of choosing efficacy endpoints for rare disease clinical trials
Two de novo novel mutations in one <i>SHANK3</i> allele in a patient with autism and moderate intellectual disability
ICD‐10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system
International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth
History and highlights of the teratological collection in the <i>Museum Anatomicum</i> of Leiden University, The Netherlands
A parent‐of‐origin analysis of paternal genetic variants and increased risk of conotruncal heart defects
CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach
Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behin
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <i>NADK2</i> start loss variant
Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review
Growth pattern of Rahman syndrome
A new mutation in the C‐terminal end of <i>TTC37</i> leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families ✓ ✓ Turkish origin
Nonsense mutations in <i>FZD2</i> cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes
Extending the phenotype associated with the <i>CSNK2A1‐</i>related Okur–Chung syndrome—A clinical study of 11 individuals
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
Perthes disease: A new finding in Floating‐Harbor syndrome
Clinical and cytogenomic findings in OAV spectrum
Response to phenotypic hetergeneity of POMT2 variants
Non‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
<i>NRP1</i> haploinsufficiency predisposes to the development of Tetralogy of Fallot
Benign and malignant tumors in Rubinstein–Taybi syndrome ✓ ✓ Dutch, general Dutch population
Clinical features, <i>BTD</i> gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China
Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities ✓ ✓ Japanese parents
Reanalysis of clinical whole‐exome sequence data yields multiple new diagnoses
In this issue
Table of Contents, Volume 176A, Number 2, February 2018
Publication schedule for 2018
GTEx project maps wide range of normal human genetic variation
Thoracic aortic aneurysm in patients with loss of function <i>Filamin A</i> mutations: Clinical characterization, genetics, and recommendations
Cover Image, Volume 176A, Number 2, February 2018
Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia
Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions
Somatic mosaic deletions involving <i>SCN1A</i> cause Dravet syndrome
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
Phenotypic heterogeneity of ZMPSTE24 deficiency
Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non‐lethal form of Raine syndrome ✓ ✓ "Arab ancestry"; "Japanese patient"; "born to Japanese parents"
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation
Cutis laxa and excessive bone growth due to de novo mutations in <i>PTDSS1</i>
Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype
Bi‐allelic mutations of <i>CCDC88C</i> are a rare cause of severe congenital hydrocephalus
A novel pathogenic <i>MYH3</i> mutation in a child with Sheldon–Hall syndrome and vertebral fusions