Journal article
Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population
American journal of medical genetics. Part A, Vol.158A(8), pp.1857-1864
08/2012
DOI: 10.1002/ajmg.a.34411
PMCID: PMC3757123
PMID: 22736430
Abstract
MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the
shaker2
(
sh2
) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in
GJB2
, were subjected to linkage analysis. Eight of these families showed linkage to the DFNB3 locus, suggesting a
MYO15A
mutation frequency of 5.71% in our cohort of Iranian population. Subsequent sequencing of the
MYO15A
gene led to identification of 7 previously unreported mutations, including 4 missense mutations, 1 nonsense mutation, and 2 deletions in different regions of the myosin-XV protein.
Details
- Title: Subtitle
- Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population
- Creators
- Zohreh Fattahi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranA. Eliot Shearer - Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa CityMojgan Babanejad - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranNiloofar Bazazzadegan - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranSeyed Navid Almadani - Department of Genetics, Reproductive Biomedicine Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, IranNooshin Nikzat - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranKhadijeh Jalalvand - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranSanaz Arzhangi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranFatemehsadat Esteghamat - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranRezvan Abtahi - Saveh Welfare Organization, Saveh, IranBatool Azadeh - Isfahan Welfare Organization, Isfahan, IranRichard J.H Smith - Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa CityKimia Kahrizi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranHossein Najmabadi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.158A(8), pp.1857-1864
- DOI
- 10.1002/ajmg.a.34411
- PMID
- 22736430
- PMCID
- PMC3757123
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Grant note
- F30 DC011674 || DC / National Institute on Deafness and Other Communication Disorders : NIDCD
- Language
- English
- Date published
- 08/2012
- 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
- 9984006403502771
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