Bazazzadegan, N. and Sheffield, A.M. and Sobhani, M. and Kahrizi, K. and Meyer, N.C. and Van Camp, G. and Hilgert, N. and Abedini, S.S. and Habibi, F. and Daneshi, A. and Nishimura, C. and Avenarius, M.R. and Farhadi, M. and Smith, R.J. and Najmabadi, H. (2011) Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. American Journal of Medical Genetics, Part A, 155 (5). pp. 1202-1211.
Full text not available from this repository.Abstract
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same village in northern Iran consistent with a founder effect. This finding implicates the D46N missense mutation in Cx26 as a common cause of deafness in this part of Iran mandating mutation screening of GJB2 for D46N in all persons with hearing loss who originate from this geographic region. © 2011 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Additional Information: | cited By 8 |
| Uncontrolled Keywords: | asparagine; aspartic acid, amino acid substitution; autosomal dominant disorder; autosomal dominant nonsyndromic hearing loss; controlled study; founder effect; gene; GJB2 gene; haplotype; hearing loss; human; Iran; missense mutation; mutational analysis; pedigree analysis; priority journal; review, Connexins; Genes, Dominant; Hearing Loss; Humans; Iran; Mutation |
| Subjects: | WK Endocrine System QU Biochemistry. Cell Biology and Genetics WW Ophthalmology |
| Depositing User: | somayeh pourmorteza |
| Date Deposited: | 05 Jan 2019 11:32 |
| Last Modified: | 05 Jan 2019 11:32 |
| URI: | http://eprints.iums.ac.ir/id/eprint/7423 |
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