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Clinical Genetics - 2009

209 articles | Last updated: 2025-12-03 14:12:56
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Further genotype–phenotype correlations in neurofibromatosis 2
<i>DCTN1</i> mutations are implicated in multiple neurodegenerative disorders
Eyebrow anomalies as a diagnostic sign of genomic disorders
Public understandings of genetics and health
The β‐tubulin gene <i>TUBB2B</i> is involved in a large spectrum of neuronal migration disorders
Reproductive decision‐making in the context of mitochondrial DNA disorders: views and experiences of professionals
Ciliary dysfunction and obesity
Non‐coding regulatory genetics of limb malformations
<i>STIL</i> on my small brain: a new gene for microcephaly
Phenotype and genotype in females with <i>POU3F4</i> mutations
Sex chromosome sequencing: X‐citing findings in mental retardation
Molecular analysis of <i>CYP21A2</i> can optimize the follow‐up of positive results in newborn screening for congenital adrenal hyperplasia
<i>SMARCB1/INI1</i> maternal germ line mosaicism in schwannomatosis
<i>BRCA1</i> 5272‐1G&gt;A and <i>BRCA2</i> 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin ✓ ✓ Spanish origin; Spanish ancestries; Castilla‐León (Spain)
Large‐scale sequencing to identify disease causing variants in X‐linked mental retardation
<i>MEFV</i> mutations in Iranian Azeri Turkish patients with familial Mediterranean fever
The contribution of founder mutations to early‐onset breast cancer in French‐Canadian women ✓ ✓ French-Canadian ("French‐Canadian women", "French‐Canadian population", "ethnically-homogeneous popu
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
Analysis of the <i>CTNS</i> gene in 32 cystinosis patients from Spain
Screening and instability of <i>FMR1</i> alleles in a prospective sample of 24,449 mother–newborn pairs from the general population
Surveillance in von Hippel‐Lindau disease (vHL)
Novel <i>PORCN</i> mutations in focal dermal hypoplasia Belgian and Finnish origin
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in <i>NF1</i>
Mutation screening in patients for familial hypercholesterolaemia (ADH)
General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care
Primary congenital glaucoma caused by the homozygous F261L <i>CYP1B1</i> mutation and paternal isodisomy of chromosome 2
Novel <i>CLN8</i> mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis ✓ ✓ uses terms 'ethnic diversity', 'ethnic groups', 'ethnic origin' and lists nationalities (Finnish, Tu
<i>CDKL5</i> truncation due to a t(X;2)(p22.1;p25.3) in a girl with X‐linked infantile spasm syndrome
Five novel germline function‐impairing mutations of <i>CYLD</i> in Italian patients with multiple cylindromas ✓ Italian patients
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1‐q21 chromosome deletion involving GPR56 gene
Two novel <i>AIRE</i> mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians ✓ ✓ ✓ Sardinian; Finn-major; Vanika Vaisya
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility ✓ ✓ ✓ African American men; individuals of African descent; various ethnic backgrounds; different ethnic g
Chromosome imbalances in syndromic hearing loss
A novel missense mutation in the <i>HAX1</i> gene in severe congenital neutropenia patients (Kostmann disease)
Novel <i>B3GALTL</i> mutation in Peters‐plus Syndrome
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
Case report: <i>de novo BRCA2</i> gene mutation in a 35‐year‐old woman with breast cancer
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the <i>HJV</i> gene with fatal outcome
Functional analysis of <i>CYP1B1</i> mutations and association of heterozygous hypomorphic alleles with primary open‐angle glaucoma ✓ ✓ Spanish
<i>SURF1</i> missense mutations promote a mild Leigh phenotype
Validation of MCADD newborn screening
Mutations in the mitochondrial glutamate carrier <i>SLC25A22</i> in neonatal epileptic encephalopathy with suppression bursts ✓ ✓ Arab Muslim Israeli; Algerian parents
The brachydactylies: a molecular disease family
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
Development and disease of the photoreceptor cilium
Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009
Mutational spectrum of <i>CDKL5</i> in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature
Genetic gains on the obesity and metabolic disease fronts
Preimplantation genetic diagnosis
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Identifying mental health services in clinical genetic settings
Diverse effects in Friedreich's ataxia place PGC‐1α center‐stage
Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing ✓ ✓ race/ethnicity; genetic (or biogeographic) ancestry; admixed populations; population-specific differ
Dandy‐Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the <i>GJB2</i> gene encoding connexin 26
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients
MicroRNAs become large in hearing loss
Kåre Berg (1932–2009)
Cornelia de Lange syndrome, cohesin, and beyond
Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
<i>APC</i> or <i>MUTYH</i> mutations account for the majority of clinically well‐characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas
Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation
An ancient disorder under iron control
Copy number changes of the microcephalin 1 gene (<i>MCPH1</i>) in patients with autism spectrum disorders
Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients ✓ ✓ Arab patients / Arab individuals
A successful screening for Fabry disease in a Chinese dialysis patient population
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients ✓ ✓ ✓ large European, Japanese and US series; Hispanics; Chilean patients; Japanese; US series
Identification of 11 novel mutations in <i>USH2A</i> among Japanese patients with Usher syndrome type 2 ✓
CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis ✓ ✓ ✓ Taiwanese; Japanese; ethnic characteristic; CBAVD patients from Taiwan; Caucasian
Clinical HD
Medical Treatments
Animal Models
Genetics/Predictive Testing
Oral Presentations
Late Breaking Abstracts
Pathogenesis
Pre‐Clinical HD
Care/Health Services
Social and Family Issues
Author Index
Epidemiology
Polyalamine repeat expansion mutations in the <i>HOXD13</i> gene in Pakistani families with synpolydactyly ✓ Pakistani
Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1
Parental<i>SCN1A</i>mutation mosaicism in familial Dravet syndrome
MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction
IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function
Phenotypic and molecular characterization of a novel <i>DCX</i> deletion and a review of the literature
SYNGAP: bridging the gap between genetic factors and autosomal non‐syndromic mental retardation
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous <i>fibulin‐4</i> gene mutation
Trisomic rescue causing reduction to homozygosity for a novel <i>ABCA12</i> mutation in harlequin ichthyosis
Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so‐called Young‐Simpson syndrome
Comprehensive mutational analysis of <i>BRCA1/BRCA2</i> for Korean breast cancer patients: evidence of a founder mutation ✓ ✓ Korean / Korean population / Koreans
Pseudogene‐derived <i>IKBKG</i> gene mutations in incontinentia pigmenti
BRCA2 alteration is important in clear cell carcinoma of the ovary
A strong founder effect for two <i>NLRP7</i> mutations in the Indian population: an intriguing observation
Molecular analysis and clinical aspects of four patients with Chédiak‐Higashi syndrome (CHS)
<i>DFNB74</i>, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2‐q15
Neuromuscular features in Marfan syndrome
An important risk factor in idiopathic generalized epilepsies
Copy number variations in three children with sudden infant death
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to <i>GATA3 </i>gene duplication
Molecular analysis of the <i>GNPTAB </i>and <i>GNPTG </i>genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations ✓ ✓ Portuguese, Finnish, Spanish of Arab origin, Indian
A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
Dynactin mutations and promises for neurodegenerative pathology
A new <i>TBX</i> gene linked to human disease
Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis
Hepatic lipase promoter C‐480T polymorphism is associated with serum lipids levels, but not subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study ✓ ✓ Young Finns; Finns
Identification of critical regions for clinical features of distal 10q deletion syndrome
Multiplex ligation‐dependent probe amplification analysis to screen for deletions and duplications of the <i>LDLR </i>gene in patients with familial hypercholesterolaemia
Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes ✓ ✓ Turkish family
Identification of a new form of autosomal dominant spastic paraplegia
A double homozygous mutation in the <i>POMT1</i> gene involving exon skipping gives rise to Walker‐Warburg syndrome in two Spanish Gypsy families ✓ Spanish Gypsy families
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the <i>BCS1L </i>gene
Inverted duplications deletions: underdiagnosed rearrangements??
Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children
VIP gene variants related to idiopathic pulmonary arterial hypertension in Chinese population ✓ ✓ Chinese population
Silencing is Not‐So Golden: A New Model for Inheritance of Lynch Syndrome
‘ERAD'icating Mislocalized Proteins in an Acromesomelic Dwarfism Disorder
A Controlled SCID: Bringing Reticular Dysgenesis to a Halt
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome
Protracted course of juvenile ceroid lipofuscinosis associated with a novel <i>CLN3 </i>mutation (p.Y199X)
<i>SOS1</i>: a new player in the Noonan‐like/multiple giant cell lesion syndrome
Novel and recurrent germline <i>LEMD3 </i>mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis
A founder <i>TMIE </i>mutation is a frequent cause of hearing loss in southeastern Anatolia ✓ ✓ southeastern Anatolia; Turkey; Middle Eastern populations
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity
Identification of mutations in the <i>EDA </i>and <i>EDAR </i>genes in Pakistani families with hypohidrotic ectodermal dysplasia
Novel <i>POU3F4 </i>mutations and clinical features of DFN3 patients with cochlear implants
Glucocerebrosidase mutation H255Q appears to be exclusively in <i>cis </i>with D409H: structural implications
Sequence variants in the <i>HLX </i>gene at chromosome 1q41‐1q42 in patients with diaphragmatic hernia
Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia
A novel microdeletion at chromosome 2q31.1‐31.2 in a three‐generation family presenting duplication of great toes with clinodactyly
Importance of gene–environment interactions in the etiology of selected birth defects
Four novel <i>SPG3A/atlastin </i>mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra‐familial variability in age of onset and complex phenotype
An X‐linked microcephaly syndrome caused by disruptions of <i>CASK</i> implicates the <i>CASK‐TBR1‐RELN</i> pathway in human brain development
The spectrum of <i>ABCC8 </i>mutations in Norwegian patients with congenital hyperinsulinism of infancy ✓ ✓ Norwegian; Scandinavia
Aberrant splicing due to a silent nucleotide change in <i>CCM2 </i>gene in a family with cerebral cavernous malformation
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (<i>OTC</i>) gene
Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis
Germ line <i>MLH1 </i>and <i>MSH2 </i>mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the <i>MLH1 </i>gene
Gastroschisis: etiology and developmental pathogenesis
Factors that affect hearing level in individuals with the mitochondrial 1555A&gt;G mutation
CASK: a scaffold protein involved in X‐linked brain malformation phenotypes
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy
Cytogenetic microarrays in Manitoba patients with developmental delay
PCSK1 variants: genetic risk factors for obesity
<i>ZFP57 </i>mutations cause an autosomal recessive imprinting disorder
Plumbing in the embryo: developmental defects of the urinary tracts
Penetrance and clinical consequences of a gross <i>SDHB </i>deletion in a large family
Clinical features of microdeletion 9q22.3 (pat)
Identity analysis of schwannomatosis kindreds with recurrent constitutional <i>SMARCB1 (INI1) </i>alterations
Is early onset breast cancer with no family history a good criterion for testing <i>BRCA1 </i>and <i>BRCA2 </i>genes? A small population‐based study
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample ✓ ✓ Western populations
Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in <i>CHST3</i>
Early onset of renal cancer in a family with Birt–Hogg–Dubé syndrome ✓ ✓ Dutch family
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the <i>SLC2A10 </i>gene
Proven germline mosaicism in a father of two children with CHARGE syndrome
Carrier frequency of the R778L, A874V, and N1270S mutations in the <i>ATP7B </i>gene in a Korean population
A functional network module for Smith–Magenis syndrome
Dominant versus recessive traits conveyed by allelic mutations – to what extent is nonsense‐mediated decay involved?
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat‐like clinical phenotype
Finding bald spots on chromosome 20p11
Homozygous <i>NLRP7 </i>mutations in a Moroccan woman with recurrent reproductive failure
The clinical variability of the <i>MECP2</i> duplication syndrome: description of two families with duplications excluding <i>L1CAM </i>and <i>FLNA</i>
Severe phenotype with <i>cis</i>‐acting heterozygous <i>PMP22</i> mutations
Identities and frequencies of mutations of the otoferlin gene (<i>OTOF</i>) causing DFNB9 deafness in Pakistan ✓ ✓ Western populations
A molecular approach for identifying individuals with Li–Fraumeni syndrome who have a limited family history
4p16.3 haplotype modifying age at onset of Huntington disease ✓ ✓ Danish
Two novel <i>LKB1 </i>mutations in Colombian Peutz–Jeghers syndrome patients
Breast and ovarian cancer risk perception after prophylactic salpingo‐oophorectomy due to an inherited mutation in the <i>BRCA1</i> or <i>BRCA2</i> gene
Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia
Preimplantation genetic diagnosis in an HIV‐serodiscordant couple carrier for sickle cell disease: lessons from a case report
Role of mutational analysis in diagnosis of tuberous sclerosis complex
Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the <i>NTRK1</i> gene ✓ ✓ Moroccan Jewish descent; Moroccan Jews; rural Jewish village in southern Morocco; ethnic subpopulati
Toriello–Carey syndrome in a patient with a <i>de novo </i>balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
A prickly cause of progressive myoclonic epilepsy
LRTOMT: a new tone in understanding the symphony of non‐syndromic deafness
Novel <i>FAM83H </i>mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta ✓ Turkish
Response to Tumas et al.
Autistic features with speech delay in a girl with an ∼1.5‐Mb deletion in 6q16.1, including <i>GPR63 </i>and <i>FUT9</i>
Finding genes underlying human disease
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
The genetics of brachyolmia: between cilia and cell volume regulation
Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives
Novel <i>PTEN </i>mutations in neurodevelopmental disorders and macrocephaly
<i>PTPN11</i>analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in <i>PTPN11</i>
Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria
Pseudoexon activation in the <i>PKHD1</i> gene: a French founder intronic mutation IVS46+653A&gt;G causing severe autosomal recessive polycystic kidney disease ✓ French (as in 'French founder intronic mutation')
Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (<i>FGFR3</i>) in Portugal ✓ ✓ Portuguese
Genetic analysis of first‐trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH
Cystic kidney diseases and planar cell polarity signaling
Huntington’s disease‐like 2 and apparent ancestry
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase‐deficient Indian patients with heterogeneous clinical phenotypes
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy
Digital clubbing: finally, a gene
A short‐lived mRNA linked to blindness
Noncoding RNAs in mental retardation
Clinical and genetic analysis of the <i>CHD7 </i>gene in Korean patients with CHARGE syndrome
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12‐p21
Prevalence of dural ectasia in 63 gene‐mutation‐positive patients with features of Marfan syndrome type 1 and Loeys‐Dietz syndrome and report of 22 novel <i>FBN1</i> mutations