Article
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Human genetics - 1 Apr 2022
Solovyev Aisen V, Kushniarevich Alena, Bliznetz Elena, Bady-Khoo Marita, Lalayants Maria R, Markova Tatiana G, Minárik Gabriel, Kádasi L'udevít, Metspalu Ene, Pshennikova Vera G, Teryutin Fedor M, Khusnutdinova Elza K, Poliakov Alexander, Metspalu Mait, Posukh Olga L, Barashkov Nikolay A, Fedorova Sardana A
Abstract excerpt
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a founder effect related to the Neolithic migration routes of Homo sapiens. The c.-23 + 1G > A splice site variant is frequently found among deaf patients of both Caucasian...
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