Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss

Abstract

The present study aimed to screen the hot-spot deafness gene mutations of adolescents with non-syndromic hearing loss in Yongchuan, Chongqing (CQ-YC ANSHL), aiming to preliminarily understand the region's spectrum and occurrence frequency of deafness gene mutation hot-spots. A total of 60 CQ-YC ANSHL were selected from the Special Education School of Yongchuan, Chongqing and the nine most common mutations of four deafness genes among the Chinese population were detected and associated with the patients' medical history as well as family history of deafness. Deafness gene mutations were detected in 22 cases, among which the detection rates of GJB2, mitochondrial 12S ribosomal ribonucleic acid and SLC26A4 mutations were 23.73% (14/59), 10.17% (6/59) and 5.08% (3/59), respectively, while no GJB3 mutation was detected. The carrying rate of deafness gene mutations in CQ-YC ANSHL was high; therefore, based on the deafness gene diagnosis, the combination of medication guidance, pre-natal diagnosis and clinical interventions may be able to effectively reduce the incidence of deafness in this region.