A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report.

ABSTRACT:

Background

Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family.

Case presentation

The proband with profound hearing loss had received audiometric assessments. We performed target region capture and next generation sequencing of 127 known deafness-related genes because the individual tested negative for hotspot variants in the GJB2, GJB3, SLC26A4, and MTRNR1 genes. We identified a novel c.6892C > T (p.R2298*) nonsense mutation and a c.10251_10253delCTT (p.F3420del) deletion in MYO15A. Sanger sequencing confirmed that both mutations were co-segregated with hearing loss in this family and were absent in 200 ethnically matche

SUBMITTER: Ma D 

PROVIDER: S-EPMC6090657 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature