Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J. H Smith; Fereydoun Azizi; Hossein Najmabadi

doi:10.1007/s00431-008-0809-8

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Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

Journal article

Peer reviewed

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

Kimia Kahrizi, Marzieh Mohseni, Carla Nishimura, Niloofar Bazazzadegan, Stephanie M Fischer, Atefeh Dehghani, Morteza Sayfati, Maryam Taghdiri, Payman Jamali, Richard J. H Smith, …

European journal of pediatrics, Vol.168(6), pp.651-653

06/2009

DOI: 10.1007/s00431-008-0809-8

PMCID: PMC4428656

PMID: 18813951

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Abstract

Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative for mutations in GJB2 at the DFNB1 locus and were therefore screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that flanked SLC26A4 . In 12 families, homozygosity for STRPs suggested possible ABD in this genomic region. Affected individuals in 5 families had a positive perchlorate discharge test. Sequence analysis of SLC26A4 identified 10 mutations in 8 families (T420I, 1197delT, G334V, R409H, T721M, R79X, S448L, L597S, 965insA and L445W) of which 4 are novel (T420I, G334V, 965insA and R79X). These results imply that Pendred syndrome is the most prevalent form of syndromic hereditary hearing loss in Iran.

DFNB4

SLC26A4 gene

PDS gene

Pendred

Details

Title: Subtitle: Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment
Creators: Kimia Kahrizi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Marzieh Mohseni - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Carla Nishimura - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United States
Niloofar Bazazzadegan - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Stephanie M Fischer - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United States
Atefeh Dehghani - The Iranian Welfare Organization
Morteza Sayfati - The Iranian Welfare Organization
Maryam Taghdiri - The Iranian Welfare Organization
Payman Jamali - The Iranian Welfare Organization
Richard J. H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United States
Fereydoun Azizi - Research Institute for Endocrine Science, Shaheed Beheshti University of Medical Sciences, Tehran, Iran
Hossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Resource Type: Journal article
Publication Details: European journal of pediatrics, Vol.168(6), pp.651-653
DOI: 10.1007/s00431-008-0809-8
PMID: 18813951
PMCID: PMC4428656
NLM abbreviation: Eur J Pediatr
ISSN: 0340-6199
eISSN: 1432-1076
Publisher: Springer Science and Business Media LLC
Language: English
Date published: 06/2009
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: 9984007298702771

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