Identifying on Causative Gene of Hereditary Middle-frequency Hearing Loss Family by High-throughput Sequencing
CAO Jingyuan
YANG Guang
WU Xiongying
ZHOU Jia
YANG Hui
YANG Changliang
SUN Yi
Abstract：Objective To analyze the audiological and genetic characteristics of a hereditary middle-frequency hear ing loss family,and identify the causative gene by using high-throughput sequencing.Methods The family members were conducted medical history investigation,physical test,audiological examination,the family genetic map,and their audiology and genetic features were analyzed.Using targeted gene capture and massively parallel sequencing,the propositus of the family were screened for initial deafness genes,including 153 nuclear genes,6 mitochondrial genes and 3 microRNAs.Resuits The pedigree (HBJW-039) of five generations lived in acounty in Hubei province,existing thirty-nine members of four generations,and five of them diagnosed sensorineural hearing loss between the ages of 6 and 40 years old,appeared postlingual deafness,mainly with decline of intermediate frequencies and progressive hearing loss.No pathogenic mutations were found in high-throughput sequencing results of initial deafness genes.Conclusion The hearing loss family meets the regulation of autosomal dominant inheritance.No pathogenic mutations are found in known hearing loss-related gene detection.
Keywords：High-throughput sequencingHereditary hearing lossAutosomal dominantMiddle-frequencyFamily
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 81-85 )