YİYUAN CHEN, RUN YANG, YİNG CHEN, TİANYU ZHANG, JİNG MA
The Journal of International Advanced Otology - 2025;21(5):1-5
Congenital hearing loss is one of the prevalent birth defects, with approximately 60% of cases attributed to genetic factors. Genetic hearing loss is broadly classified into syndromic and non-syndromic forms, with non-syndromic hearing loss accounting for 70% of cases. MYO15A mutations are known to cause autosomal recessive non-syndromic hearing loss (ARNSHL), while MT-RNR1 mutations follow a maternal inheritance pattern and are linked to aminoglycoside-induced hearing loss. In this study, a family with diverse manifestations of non-syndromic hearing loss was investigated, including aminoglycoside-induced, congenital profound, and post-lingual profound hearing loss. Through whole exome sequenc-ing, distinct genetic etiologies responsible for hearing loss in affected family members were identified. This is the first report to document the co-occurrence of a compound heterozygous MYO15A mutation alongside an MT-RNR1 mutation within a pedigree. Additionally, it is the first obser-vation of both a homozygous MYO15A c.6956+9C>G mutation and compound heterozygous MYO15A mutations (c.[6956+9C>G] + [4898T>C]) in ARNSHL. These findings broaden the genotype-phenotype spectrum of MYO15A and highlight the critical role of genetic diagnosis in managing hearing loss.
