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Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Abdelhadi, O; Iancu, D; Tekman, M; Stanescu, H; Bockenhauer, D; Kleta, R; (2016) Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Molecular Genetics & Genomic Medicine , 4 (5) pp. 521-526. 10.1002/mgg3.227. Green open access

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Abstract

BACKGROUND: EAST 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. METHODS: To 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. RESULTS: We 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. CONCLUSION: By knowing the prevalent mutation in a given population more efficient diagnostics can be performed and the families can benefit from specific counseling.

Type: Article
Title: Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mgg3.227
Publisher version: http://dx.doi.org/10.1002/mgg3.227
Language: English
Additional information: © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Ataxia, Kir4.1, epilepsy, kidney, potassium channel, tubulopathy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1518352
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