A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation

摘要

In the present study, the authors reported a family of a male proband with prelingual, profound non-syndromic hearing impairment homozygous for p.W24X mutation in?GJB2gene, arising as a result of maternal uniparental disomy of a part of chromosome 13q.