A novel missense variant in MYO3A is associated with autosomal dominant high ‐frequency hearing loss in a German family

ConclusionCorrelation analysis of pure ‐tone hearing thresholds revealed progressive hearing loss, especially in the high‐frequencies. In the present study, we report the first dominant likely pathogenic variant inMYO3A in a European family and further supportMYO3A as an autosomal dominant hearing loss gene.

Source: Molecular Genetics & Genomic Medicine - June 9, 2020 Category: Genetics & Stem Cells Authors: Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias M üller, Marcus Dittrich, Thomas Haaf, Barbara Vona Tags: CLINICAL REPORT Source Type: research