ArticleMolecular genetics & genomic medicine2016
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Clinical and genetic approach to renal hypomagnesemia.Biomedical journal · 2022Review
- Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).Molecular genetics & genomic medicine · 2021Article
- Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.Frontiers in neurology · 2020Review
- NovelFrontiers in genetics · 2019Article
- Of dogs and men.European journal of human genetics : EJHG · 2017Article
- Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child withSAGE open medical case reports · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to establish the existence of a potential founder effect in the Pakistani population.
methodsTo this end, we genotyped 12 patients from seven families and we compared disease haplotypes with ethnically matched control chromosomes. This haplotype was used together with demographic data for Pakistan to estimate the age of this founder mutation.
resultsWe identified a small homozygous 0.694 Mb region around the KCNJ10 p.R65P mutation that had identical haplotypes in all of the patients which were completely absent in the control sample. Based on current demographic data and knowledge about disease frequency, we estimate that this particular p.R65P mutation arose 20 generations (about 500 years) ago.
conclusionBy knowing the prevalent mutation in a given population more efficient diagnostics can be performed and the families can benefit from specific counseling.
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