Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

Nicole C Meyer; Fatemeh Alasti; Carla J Nishimura; Parisa Imanirad; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Nafiseh Kochakian; Payman Jamali; Guy Van Camp; Richard J H Smith; Hossein Najmabadi

doi:10.1002/ajmg.a.31718

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Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

Journal article

Peer reviewed

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

Nicole C Meyer, Fatemeh Alasti, Carla J Nishimura, Parisa Imanirad, Kimia Kahrizi, Yasser Riazalhosseini, Mahdi Malekpour, Nafiseh Kochakian, Payman Jamali, Guy Van Camp, …

American journal of medical genetics. Part A, Vol.143A(14), pp.1623-1629

07/15/2007

DOI: 10.1002/ajmg.a.31718

PMID: 17431902

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Abstract

Forty-five consanguineous Iranian families segregating autosomal recessive nonsyndromic hearing loss (ARNSHL) and negative for mutations at the DFNB1 locus were screened for allele segregation consistent with homozygosity by descent (HBD) at the DFNB21 locus. In three families demonstrating HBD at this locus, mutation screening of TECTA led to the identification of three novel homozygous mutations: one frameshift mutation (266delT), a transversion of a cytosine to an adenine (5,211C > A) leading to a stop codon, and a 9.6 kb deletion removing exon 10. In total, six mutations in TECTA have now been described in families segregating ARNSHL. All of these mutations are inactivating and produce a similar phenotype that is characterized by moderate-to-severe hearing loss across frequencies with a mid frequency dip. The truncating nature of these mutations is consistent with loss-of-function, and therefore the existing TECTA knockout mouse mutant represents a good model in which to study DFNB21-related deafness.

Audiometry

Extracellular Matrix Proteins - genetics

GPI-Linked Proteins

Hearing Loss, Sensorineural - pathology

Family Health

Genotype

Hearing Loss, Sensorineural - genetics

Genes, Recessive

Sequence Homology, Nucleic Acid

Membrane Glycoproteins - genetics

Iran

DNA Mutational Analysis

Pedigree

Base Sequence

Connexins

Consanguinity

Mutation

Hearing Loss, Sensorineural - physiopathology

Details

Title: Subtitle: Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
Creators: Nicole C Meyer - Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Fatemeh Alasti
Carla J Nishimura
Parisa Imanirad
Kimia Kahrizi
Yasser Riazalhosseini
Mahdi Malekpour
Nafiseh Kochakian
Payman Jamali
Guy Van Camp
Richard J H Smith
Hossein Najmabadi
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.143A(14), pp.1623-1629
DOI: 10.1002/ajmg.a.31718
PMID: 17431902
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: R01-DC02842 / NIDCD NIH HHS
Language: English
Date published: 07/15/2007
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: 9984006434202771

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