Identification and characterization of a novel p. S390C variant in <i>TMC1</i> in an autosomal recessive family with non-syndromic hearing loss

The p. S390C variant in <i>TMC1</i> gene is highly likely to be pathogenic and associated with autosomal recessive hearing loss. Our study expanded the mutation spectrum of the <i>TMC1</i> gene, providing deeper insights into the genotype-phenotype correlations of hereditary deafness, which holds significant implications for genetic diagnosis and counseling in affected families.