Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.

ABSTRACT: Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesting late-onset progressive non-syndromic hearing loss was recruited. The phenotype of hearing loss in this family showed a large variability in terms of onset age and progression speed. A novel mutation (c.706 C > T, p.L236F) was identified by the whole exome sequencing, and its pathogenicity was confirmed by altering the subcellular localization of POU4F3. In addition, we found that two individuals with earlier age of onset and more rapid progression of hearing loss carry additional pathogenic variants i

SUBMITTER: Pan J 

PROVIDER: S-EPMC11733205 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature