Article
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Genes - 1 May 2021
Safka Brozkova Dana, Uhrova Meszarosova Anna, Lassuthova Petra, Varga Lukáš, Staněk David, Borecká Silvia, Laštůvková Jana, Čejnová Vlasta, Rašková Dagmar, Lhota Filip, Gašperíková Daniela, Seeman Pavel
Abstract excerpt
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent among those with...
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