Research Progress of WFS1-associated hereditary hearing loss
NIU Zhijie
TANG Fen
WEI Jingshu
HE Guangyao
TANG Anzhou
Abstract：The WFS1 gene is located on chromosome 4p16.1 and encodes an endoplasmic reticulum transmem-brane Wolfram protein,which is involved in regulating the homeostasis of calcium ions in the endoplasmic reticulum and plays a role in protein transport and apoptosis.Mutations in the WFS1 gene are associated with a variety of heredi-tary diseases.The main types of hearing loss symptoms are recessive Wolfram syndrome type 1 and dominant Wolfram-like syndrome and nonsyndromic low-frequency sensorineural hearing loss(LFSNHL)-DFNA6/14/38.The clinical phe-notype of Wolfram syndrome type 1 is highly heterogeneous and includes diabetes insipidus,diabetes,optic atrophy,and deafness.Wolfram-like syndrome is rarely reported,and its'dominant inheritance pattern is distinct from Wolfram syndrome type 1.The WFS1 gene is the most common causative gene for nonsyndromic LFSNHL.This article reviews the hereditary deafness-related diseases associated with the WFS1 gene and provides guidance for clinical diagnosis and treatment.
Keywords：WFS1genetic deafnessmutationDFNA6/14/38Wolfram syndrome 1
Publication Date：2024-04-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 283-286 )