Journal article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
The Laryngoscope, Vol.119(4), pp.727-733
04/2009
DOI: 10.1002/lary.20116
PMCID: PMC2885251
PMID: 19274735
Abstract
To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families.
Family study.
Members of each family received otologic and audiometric examination for the type and extent of hearing loss. Linkage mapping using Affymetrix 50K GeneChips and short tandem repeat (STRP) analysis localized the hearing loss in both families to the DFNB3 locus. Direct sequencing of the MYO15A gene was completed on affected members of both families.
Family L-3165 segregated a novel homozygous missense mutation (c.6371G>A) that results in a p.R2124Q amino acid substitution in the myosin XVa protein, while family L-896 segregated a novel homozygous missense (c.6555C>T) mutation resulting in a p.P2073S amino acid change.
These are the first MYO15A mutations reported to cause DFNB3 sensorineural hearing loss in the Iranian population. Like other mutations located in the myosin tail homology 4 (MyTH4) domain, the p.R2124Q and p.P2073S mutations are predicted to disrupt the function of the myosin XVa protein, which is integral to the mechanosensory activity of hair cells in the inner ear.
Details
- Title: Subtitle
- Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
- Creators
- A Eliot Shearer - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USAMichael S HildebrandJennifer A WebsterKimia KahriziNicole C MeyerKhadijeh JalalvandSanaz ArzhanginyWilliam J KimberlingDietrich StephanMelanie BahloRichard J H SmithHossein Najmabadi
- Resource Type
- Journal article
- Publication Details
- The Laryngoscope, Vol.119(4), pp.727-733
- DOI
- 10.1002/lary.20116
- PMID
- 19274735
- PMCID
- PMC2885251
- NLM abbreviation
- Laryngoscope
- ISSN
- 0023-852X
- eISSN
- 1531-4995
- Publisher
- Wiley; United States
- Grant note
- R01 DC003544 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS R01 DC002842-15 / NIDCD NIH HHS R01 DC003544-13 / NIDCD NIH HHS R01 DCOO3544 / PHS HHS T32 GM007337 / NIGMS NIH HHS
- Language
- English
- Date published
- 04/2009
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006414502771
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