Research Article

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

Figure 4

The distribution of missense variants in wolframin protein leading to HL and Wolfram syndrome. The pathogenic missense variants associated with HL or Wolfram syndrome were collected from the Human Gene Mutation Database, ClinVar, and Deafness Variation Database. Missense variants in the WFS1 gene leading to HL are located mainly in the ER lumen domain. The highlighted p.G674W is a novel WFS1 variant reported in this study. Endoplasmic reticulum lumen: ER lumen; transmembrane domain: TM domain; hearing loss: HL; Wolfram syndrome: WS.