Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

ConclusionsWe found 3.9% (5/128) of sporadic NSHL is caused by de novo WFS1 mutations. Our data provide that the de novo p.E864K mutation is first identified and de novo p.A684V mutation is likely to be a mutational hot spot inWFS1. It is the first study to highlight thatWFS1 gene with the two de novo mutations has been indicated to classify the distinct hearing impairment phenotypes. Furthermore, de novo p.A684V serves as aWFS1 mutational hot spot that was found in the Chinese population with sporadic childhood NSHL, and our study also provides pointers toward the necessity for sequencing of asymptomatic parents of a sporadic case with an apparent dominant pathogenic variant.

Source: Molecular Genetics & Genomic Medicine - June 21, 2020 Category: Genetics & Stem Cells Authors: Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang Tags: ORIGINAL ARTICLE Source Type: research