Unknown

Dataset Information

0

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 matched controls. Bioinformatics analysis and protein modeling indicated the deleterious effects of both mutations. The p.R2298* mutation leads to a truncated protein and a loss of the functional domains. CONCLUSIONS:Our results demonstrated that the hearing loss in this case was caused by novel, compound heterozygous mutations in MYO15A. The p.R2298* mutation in MYO15A was reported for the first time, which has implications for genetic counseling and provides insight into the functional roles of MYO15A mutations.

SUBMITTER: Ma D 

PROVIDER: S-EPMC6090657 | BioStudies | 2018-01-01

SECONDARY ACCESSION(S): 600316

REPOSITORIES: biostudies

Similar Datasets

2010-01-01 | S-EPMC2909915 | BioStudies
2018-01-01 | S-EPMC5907479 | BioStudies
2013-01-01 | S-EPMC3727941 | BioStudies
2019-01-01 | S-EPMC6687625 | BioStudies
2020-01-01 | S-EPMC6986010 | BioStudies
2014-01-01 | S-EPMC3861312 | BioStudies
2020-01-01 | S-EPMC7313121 | BioStudies
2018-01-01 | S-EPMC6160144 | BioStudies
2008-01-01 | S-EPMC7165727 | BioStudies
2019-01-01 | S-EPMC6757496 | BioStudies