%0 Multicenter Study
%T Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.
%A Zhao M
%A Luo X
%A Zhao Q
%A Yang T
%A Zhang W
%A Chen Z
%A Zeng S
%A Chen W
%A Zhang H
%A Wang Q
%A Wang W
%A Zhang X
%A Zhong T
%J Int J Pediatr Otorhinolaryngol
%V 174
%N 0
%D 2023 Nov
%M 37801830
%F 1.626
%R 10.1016/j.ijporl.2023.111744
%X <B>BACKGROUND: </B>HL is the second most common congenital disability in China, and its high incidence brings a serious burden of medical and educational sequelae. HL genetic screening enables the identification of individuals with inherited HL and carriers in a large scale.<BR><B>OBJECTIVE: </B>This study aimed to measure the detection rates of hearing loss (HL)-associated gene mutations in the Gannan population. The molecular etiology and risk factors of hereditary HL were also analyzed.<BR><B>METHODS: </B>In total, 119,606 newborns from 18 districts of Gannan were enrolled in this multi-center study conducted between April 2019 and April 2021. Otoacoustic Emission (OAE) was used for primary hearing screening 3 days after birth in quiet conditions, and OAE combined with automated auditory brainstem response (AABR) was applied 29-42 days after birth for those who failed or missed the initial screening. Meanwhile, high-throughput sequencing of hotspot HL-associated mutations in GJB2, GJB3, MTRNR1, and SLC26A4 were performed.<BR><B>RESULTS: </B>Among the 119,606 newborns, 7796 (6.52%) failed the hearing screening. Genetic screening revealed that 5092 neonates (4.26%) carried HL-associated mutations. The detection rate of GJB2, SLC26A4, MTRNR1 and GJB3 mutations were 2.09%, 1.51%, 0.42% and 0.24%, respectively. The most prevalent variant was GJB2 c.235delC (1.74%). The second most prevalent variant was SLC26A4 c.919-2A > G (0.93%). The population who failed the hearing screening had a lower proportion (24.64%) of SLC26A4 gene variants compared to the population who passed (37.46%). Genetic screening identified 4612 (3.86%) carriers who were normal in hearing screenings. The concurrent hearing and genetic screening identified 480 (0.40%) neonates at high risk for hereditary HL.<BR><B>CONCLUSIONS: </B>The results of this study suggest that the concurrent hearing screening and high-throughput genetic screening would greatly improve the effectiveness of newborn HL programs. This integration also facilitates the management of congenital HL, and aids in the prevention of aminoglycoside antibiotics-induced HL.