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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Abdelhadi O,Iancu D,Tekman M,Stanescu H,Bockenhauer D,Kleta Rdoi
10.1002/mgg3.227subject
Has Abstractpub_date
2016-06-07 00:00:00pages
521-6issue
5issn
2324-9269pii
MGG3227journal_volume
4pub_type
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