Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

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

SUBMITTER: Abdelhadi O 

PROVIDER: S-EPMC5023937 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature