High Rates of Three Common <i>GJB2</i> Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

High Rates of Three Common <i>GJB2</i> Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

The mutations in the <i>GJB2</i> gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive <i>GJB2</i> mutations c.516G>C, c.-23+1G&g...

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Bibliographic Details
Main Authors: Marina V. Zytsar, Marita S. Bady-Khoo, Valeriia Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
hearing loss
<i>GJB2</i>
founder effect
STR and SNP haplotypes
mutation age
Tuvinians
Online Access:https://www.mdpi.com/2073-4425/11/7/833

Internet

https://www.mdpi.com/2073-4425/11/7/833

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