Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Michael S Hildebrand; Kimia Kahrizi; Catherine J Bromhead; A Eliot Shearer; Jennifer A Webster; Hossein Khodaei; Rezvan Abtahi; Niloofar Bazazzadegan; Mojgan Babanejad; Nooshin Nikzat; William J Kimberling; Dietrich Stephan; Patrick L M Huygen; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi

doi:10.1177/000348941011901207

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Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Journal article

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Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Michael S Hildebrand, Kimia Kahrizi, Catherine J Bromhead, A Eliot Shearer, Jennifer A Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, …

Annals of otology, rhinology & laryngology, Vol.119(12), pp.830-835

12/2010

DOI: 10.1177/000348941011901207

PMCID: PMC3058627

PMID: 21250555

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https://www.ncbi.nlm.nih.gov/pmc/articles/3058627View

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Abstract

We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families. Otologic and audiometric examinations were performed on affected members of each family. Genome-wide parametric multipoint linkage mapping using a recessive model was performed with Affymetrix 50K GeneChips or short tandem repeat polymorphisms. Direct sequencing was used to confirm the causative mutation in each family. In 2 Iranian families, L-1651 and L-8600606, with ARNSHL that mapped to the DFNB7/11 locus, homozygosity for a reported splice site mutation (c.776+1G>A), and a novel deletion (c.1589_1590delCT; p.S530*) were identified in the TMC1 gene, respectively. Consistent with the previously reported phenotype in DFNB7/11 families, the 2 Iranian families had segregated congenital, profound hearing impairment. However, in family L-1651, one affected family member (IV:3) has milder hearing impairment than expected, suggesting a potential genetic modifier effect. These results indicate that DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide.

Iran

Mutation

Sequence Deletion

Genome-Wide Association Study

Computers, Handheld

Deafness - genetics

RNA Splice Sites - genetics

Membrane Proteins - genetics

Humans

Genotype

Chromosome Mapping

Sequence Analysis, DNA

Hearing Loss - genetics

Hearing Loss - congenital

Pedigree

Consanguinity

Polymorphism, Single Nucleotide

Deafness - congenital

Microsatellite Repeats

Details

Title: Subtitle: Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population
Creators: Michael S Hildebrand - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Kimia Kahrizi
Catherine J Bromhead
A Eliot Shearer
Jennifer A Webster
Hossein Khodaei
Rezvan Abtahi
Niloofar Bazazzadegan
Mojgan Babanejad
Nooshin Nikzat
William J Kimberling
Dietrich Stephan
Patrick L M Huygen
Melanie Bahlo
Richard J H Smith
Hossein Najmabadi
Resource Type: Journal article
Publication Details: Annals of otology, rhinology & laryngology, Vol.119(12), pp.830-835
DOI: 10.1177/000348941011901207
PMID: 21250555
PMCID: PMC3058627
NLM abbreviation: Ann Otol Rhinol Laryngol
ISSN: 0003-4894
eISSN: 1943-572X
Publisher: United States
Grant note: R01 DC002842-16 / NIDCD NIH HHS T32 GM007337 / NIGMS NIH HHS R01 DC002842 / NIDCD NIH HHS
Language: English
Date published: 12/2010
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: 9984006341002771

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