Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.

Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families. To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members. In the present study, we report the identification of four compound heterozygous variants in the gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W). Our findings significantly expanded the mutation spectrum of -associated autosomal recessive hearing loss.