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Batch audit-20260421-labels-seed42 · created 2026-04-21 07:03 · seed 42

All caucasian white european other none of these labels Pending only Reviewed only

caucasian
25 reviewed / 25 total
0 pending
Confirmed caucasian 25 · Not caucasian on review 0

white
25 reviewed / 25 total
0 pending
Confirmed white 24 · Not white on review 1

european
10 reviewed / 25 total
15 pending
Confirmed european 10 · Not european on review 0

other
25 reviewed / 25 total
0 pending
Confirmed other 25 · Not other on review 0

none of these labels
0 reviewed / 100 total
100 pending
Confirmed none of these labels 0 · Uses tracked labels on review 0

["An homozygous mutation in <i>KCNK3</i> is associated with an aggressive form of hereditary pulmonary arterial hypertension"]

Clinical Genetics · 2016 · article 79417703 · 10.1111/cge.12869

Review target: other. Review status: reviewed

Audit result: confirmed other · reviewer georgina · 2026-05-26 21:44

Classifier flags: other: Spanish patients; Romani family

Pulmonary arterial hypertension (PAH) is a rare devastating disease characterized by a high genetic heterogeneity with several related genes recently described, including BMPR2,TBX4 and KCNK3. The association between KCNK3 and PAH has been recently identified, but the prognosis and phenotype associated with these mutations have been poorly described. We studied a series of 136 idiopathic and hereditary PAH Spanish patients for BMPR2, TBX4 and KCNK3 mutations. We report the results of KCNK3 in which we were able to describe two new mutations (p.Gly106Arg and p.Leu214Arg) in three patients. The first one was found in a patient belonging to a consanguineous Romani family, who carried a homozygous mutation in KCNK3 and developed a severe and early form of the disease. To the best of our knowledge, this is the first time that a homozygous mutation in KCNK3 is reported in a PAH patient. The second one was found in a patient who presented at the young adult age a severe form of the disease. The present report supports the contribution of KCNK3 mutations to the genetic etiology of PAH and strongly suggests that mutations in KCNK3 follow incomplete dominance with worsening of the clinical features in homozygous patients.

Target	Article	Journal	Status	Outcome	Reviewer	Updated
other	["<scp>RP2</scp>‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association"] article 42054996	American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Homozygous hypomorphic<i>BRCA2</i>variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait"] article 44822308	Journal of Medical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese"] article 48816578	Clinical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Schuurs‐Hoeijmakers syndrome in two patients from Japan"] article 59189996	American Journal of Medical Genetics Part A 2018	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Ethnic variation of <i>IL‐4</i> intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects"] article 60989976	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2018	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Association between glutathione S‐transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta‐analysis"] article 65220834	Clinical Genetics 2018	reviewed	confirmed other	georgina	2026-05-26 21:43
other	["Genetic characterization of <scp>GSD</scp> I in Serbian population revealed unexpectedly high incidence of <scp>GSD</scp> Ib and 3 novel <i><scp>SLC37A4</scp></i> variants"] article 72601531	Clinical Genetics 2017	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians"] article 73805871	Genetics in Medicine 2017	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["An homozygous mutation in <i>KCNK3</i> is associated with an aggressive form of hereditary pulmonary arterial hypertension"] article 79417703	Clinical Genetics 2016	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study"] article 112866163	The American Journal of Human Genetics 2012	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification"] article 117588340	Journal of Medical Genetics 2011	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["A follow‐up case–control association study of tractable (druggable) genes in recurrent major depression"] article 119739981	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2011	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21"] article 123204951	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Dermatoglyphics in Down's syndrome. III"] article 124860953	Clinical Genetics 1973	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome"] article 124891610	Clinical Genetics 1990	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study"] article 128490716	Human Genetics 2009	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications."] article 134047871	Journal of Medical Genetics 1992	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population"] article 134424999	American Journal of Medical Genetics Part A 2008	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Evidence for linkage between Wilson disease and esterase D in three kindreds: Detection of linkage for an autosomal recessive disorder by the family study method"] article 153581167	Genetic Epidemiology 1986	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Candidate gene analysis in human neural tube defects"] article 154355026	American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2005	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Putative common origin of two <i>MLH1</i> mutations in Italian‐Quebec hereditary non‐polyposis colorectal cancer families"] article 158518734	Clinical Genetics 2004	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Mexican geneticists’ views of ethical issues in genetics testing and screening. Are eugenic principles involved?"] article 164035051	Clinical Genetics 1999	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Prevalence of germline mutations of h MLH1 , h MSH2 , h PMS1 , h PMS2 , and h MSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer"] article 167563203	Human Genetics 1999	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Genetic diversity and signatures of selection in four indigenous horse breeds of Iran"] article 176990118	Heredity 2023	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Peripheral health workers’ knowledge and experience related to sickle cell disease: an in-depth interview study in six tribal-dominated districts of India"] article 192514179	Journal of Community Genetics 2022	reviewed	confirmed other	georgina	2026-05-26 21:46