Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss
dc.contributor.author | Bazazzadegan, Niloofar | en_US |
dc.contributor.author | Sheffield, Abraham M. | en_US |
dc.contributor.author | Sobhani, Masoomeh | en_US |
dc.contributor.author | Kahrizi, Kimia | en_US |
dc.contributor.author | Meyer, Nicole C. | en_US |
dc.contributor.author | Van Camp, Guy | en_US |
dc.contributor.author | Hilgert, Nele | en_US |
dc.contributor.author | Abedini, Seyedeh Sedigheh | en_US |
dc.contributor.author | Habibi, Farkhondeh | en_US |
dc.contributor.author | Daneshi, Ahmad | en_US |
dc.contributor.author | Nishimura, Carla | en_US |
dc.contributor.author | Avenarius, Matthew R. | en_US |
dc.contributor.author | Farhadi, Mohammad | en_US |
dc.contributor.author | Smith, Richard J. H. | en_US |
dc.contributor.author | Najmabadi, Hossein | en_US |
dc.date.accessioned | 2011-05-06T15:39:16Z | |
dc.date.available | 2012-06-15T14:07:14Z | en_US |
dc.date.issued | 2011-05 | en_US |
dc.identifier.citation | Bazazzadegan, Niloofar; Sheffield, Abraham M.; Sobhani, Masoomeh; Kahrizi, Kimia; Meyer, Nicole C.; Van Camp, Guy; Hilgert, Nele; Abedini, Seyedeh Sedigheh; Habibi, Farkhondeh; Daneshi, Ahmad; Nishimura, Carla; Avenarius, Matthew R.; Farhadi, Mohammad; Smith, Richard J.H.; Najmabadi, Hossein (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): 1202-1211. <http://hdl.handle.net/2027.42/83755> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/83755 | |
dc.description.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. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran | en_US |
dc.contributor.affiliationother | Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, IA | en_US |
dc.contributor.affiliationother | Prevention Department, Talesh Welfare Center, Gilan Province, Iran | en_US |
dc.contributor.affiliationother | Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran | en_US |
dc.contributor.affiliationother | Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, IA | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University of Antwerp (UA), Antwerp, Belgium | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University of Antwerp (UA), Antwerp, Belgium | en_US |
dc.contributor.affiliationother | Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran | en_US |
dc.contributor.affiliationother | Prevention Department, Rasht Welfare Center, Gilan Province, Iran | en_US |
dc.contributor.affiliationother | Research Center of Ear, Nose, Throat, Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran | en_US |
dc.contributor.affiliationother | Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, IA | en_US |
dc.contributor.affiliationother | Research Center of Ear, Nose, Throat, Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran | en_US |
dc.contributor.affiliationother | Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, IA | en_US |
dc.contributor.affiliationother | Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran ; Professor of Medical & Molecular Genetics, Head & Director of the Genetics Research Center, Director of National Prenatal Reference Laboratory, University of Social Welfare and Rehabilitation Sciences, Koodakyar St, Daneshjoo Blvd, Evin, Tehran 19834, Iran. | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/83755/1/33209_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.33209 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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