How to Cite this Article: Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJH, Najmabadi H. 2011. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet Part A 155:1202–1211.
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss†
Version of Record online: 11 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1202–1211, May 2011
How to Cite
Bazazzadegan, N., Sheffield, A. M., Sobhani, M., Kahrizi, K., Meyer, N. C., Van Camp, G., Hilgert, N., Abedini, S. S., Habibi, F., Daneshi, A., Nishimura, C., Avenarius, M. R., Farhadi, M., Smith, R. J.H. and Najmabadi, H. (2011), Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am. J. Med. Genet., 155: 1202–1211. doi: 10.1002/ajmg.a.33209
- Issue online: 19 APR 2011
- Version of Record online: 11 APR 2011
- Manuscript Accepted: 17 OCT 2009
- Manuscript Received: 6 MAY 2008
- Iranian National Science Foundation. Grant Number: 85073/23, 85033/10
- National Institutes of Health (NIH)-NIDCD. Grant Number: RO1 DCOO2842, RO1 DCO3544
- connexin 26;
- autosomal dominant nonsyndromic hearing loss;
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.