Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss
10.3760/cma.j.issn.1673-0860.2016.09.019
- VernacularTitle:WFS1基因相关Wolfram综合征和非综合征型低频感音神经性聋的遗传学和病理生理学研究进展
- Author:
Suming SHI
1
;
Yuhang HAN
;
Haibo WANG
Author Information
1. 山东大学附属山东省立医院耳鼻咽喉头颈外科山东省耳科学重点实验室
- Keywords:
WFS1 gene;
Wolfram syndrome;
Hearing loss,sensorineural;
Genotype;
phenotype
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2016;51(9):712-715
- CountryChina
- Language:Chinese
-
Abstract:
Compound homozygous or heterozygous mutations in WFS1 can lead to autosomal recessive Wolfram syndrome (WS),and heterozygous mutations in WFS1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL).In addition,mutations in the WFS region has relationship with diabetes and psychiatric diseases.In this paper,we provide an overview of genetic research with different phenotypes,including WS and LFSNHL.
