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Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
Author(s) -
Meyer Nicole C.,
Alasti Fatemeh,
Nishimura Carla J.,
Imanirad Parisa,
Kahrizi Kimia,
Riazalhosseini Yasser,
Malekpour Mahdi,
Kochakian Nafiseh,
Jamali Payman,
Van Camp Guy,
Smith Richard J.H.,
Najmabadi Hossein
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31718
Subject(s) - locus (genetics) , genetics , identification (biology) , hearing loss , biology , audiology , medicine , gene , botany
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 (5211C > 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. © 2007 Wiley‐Liss, Inc.