Auditory genotype-phenotype correlation of patients with variants in STRC.

ABSTRACT: Pathogenic variants in the STRC gene are among the most common causes of autosomal recessive non-syndromic hearing loss, particularly in cases with mild-to-moderate sensorineural hearing loss (SNHL). Despite its prevalence, the clinical phenotype and natural history of STRC-related SNHL remain undercharacterized due to diagnostic challenges posed by a highly homologous pseudogene, pSTRC. This study included 23 families enrolled in the Yonsei University Hearing Loss cohort. Genetic testing was performed using either targeted deafness gene panels or whole-exome sequencing, followed by multiplex ligation-dependent probe amplification and confirmatory Sanger sequencing. A total of 23 patients with STRC-related SNHL were identified, including 12 with homozygous STRC/CATSPER2 gene deletions and

SUBMITTER: Cheon TU 

PROVIDER: S-EPMC12749329 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature