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Article

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

BioMed research international - 1 Jan 2021

Li Jinying, Xu Hongen, Sun Jianfeng, Tian Yongan, Liu Danhua, Qin Yaping, Liu Huanfei, Li Ruijun, Neng Lingling, Deng Xiaohua, Xue Binbin, Yu Changyun, Tang Wenxue

Abstract excerpt

OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genotype-phenotype correlation of WFS1 variants. METHODS: The clinical phenotype of the five-generation Chinese family was characterized using audiological examinations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34258273
DOI: 10.1155/2021/6624744
PMCID: PMC8260318

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