[Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].
Compound homozygous or heterozygous mutations inWFS1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations inWFS1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in theWFSregion has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.
Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Province Key Laboratory of Otology, Jinan 250021, China.
S M
SM
Shi
Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Province Key Laboratory of Otology, Jinan 250021, China.
Y H
YH
Han
Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Province Key Laboratory of Otology, Jinan 250021, China.
H B
HB
Wang
D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D001523:Mental Disorders / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014929:Wolfram Syndrome / Q000235:genetics*
D008565:Membrane Proteins; C114987:wolframin protein