Novel Pathogenic Variant of the <i>TRRAP</i> Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.

ABSTRACT: Autosomal dominant non-syndromic hearing loss (ADNSHL) is a genetically heterogenic condition. The transformation/transcription domain associated protein (TRRAP) gene has been recently associated with ADNSHL, and only four variants of the gene have so far been reported in this disease. Here, we report on a Hungarian ADNSHL family in which the affected individuals exhibited sensorineural hearing loss with similar clinical symptoms, including initial impaired high frequencies that subsequently affected speech and lower frequencies. Whole exome sequencing and screening of the shared genetic variants of the affected individuals was performed. Our results revealed a novel heterozygous missense variant (NM_001244580.2, c.5360A>G, p.Lys1787Arg) in the TRRAP gene. This variant is com

SUBMITTER: Nagy N 

PROVIDER: S-EPMC11855266 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature