Author:
Du Qiang,Sun Qin,Gu Xiaodong,Wang Jinchao,Li Weitao,Guo Luo,Li Huawei
Abstract
AbstractHearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately severe hearing loss at all frequencies. Using target genome enrichment and high-throughput sequencing, the homozygous variant c.2372del; p.(Ser791fs) was identified in PDZD7. This variant lies in exon 15 of PDZD7 and results in a frame shift followed by an early stop codon. It is classified as pathogenic according to the ACMG/AMP guidelines and ClinGen specifications. Our study expands the pathogenic variant spectrum of PDZD7 and strengthens the clinical importance of this gene in patients with moderately severe hearing loss.
Funder
National Natural Science Foundation of China
National Key Research and Development Program of China
Shanghai Municipal Health Commission
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics