Identification of novel cadherin 23 variants in a Chinese family with hearing loss

Abstract

The aim of the present study was to elucidate the role of the non-syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non-syndromic hearing loss. The present study focused on a Chinese family with hearing loss in which there were two siblings with autosomal, recessive deafness, ranging from severe to profound hearing loss over all frequencies. DNA sequencing was used to assess the genetic factors in the disease etiology. The data revealed a compound heterozygous mutation of CDH23 in both patients. Genetic CDH23 variants are known to be responsible for non-syndromic hearing loss, and CDH23 variants frequently occur in various populations, including Japanese and Republic of Korean. Results from the present study, indicated a significant contribution of CDH23 variants to the non-syndromic hearing loss in Chinese patients.