Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Open Access
- 9 November 2013
- journal article
- Published by Springer Science and Business Media LLC in Journal of Translational Medicine
- Vol. 11 (1), 284
- https://doi.org/10.1186/1479-5876-11-284
Abstract
Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis. We identified MYO15A c.IVS25 + 3G > A and c.8375 T > C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls. Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.Keywords
This publication has 29 references indexed in Scilit:
- Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese FamilyPLOS ONE, 2013
- Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing ImpairmentAmerican Journal of Human Genetics, 2011
- Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossNature Genetics, 2011
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeProceedings of the National Academy of Sciences, 2011
- Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)Proceedings of the National Academy of Sciences of the United States of America, 2011
- MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels SyndromesAmerican Journal of Human Genetics, 2010
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault SyndromeAmerican Journal of Human Genetics, 2010
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82American Journal of Human Genetics, 2010
- Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing LossAmerican Journal of Human Genetics, 2010
- Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing lossThe Laryngoscope, 2009