Journal article
Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss
American journal of medical genetics. Part A, Vol.155(5), pp.1202-1211
05/2011
DOI: 10.1002/ajmg.a.33209
PMCID: PMC3080436
PMID: 21484990
Abstract
Mutations in
GJB2
, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described
GJB2
mutations cause autosomal recessive nonsyndromic hearing loss. 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.
Details
- Title: Subtitle
- Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss
- Creators
- Niloofar Bazazzadegan - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranAbraham M Sheffield - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United StatesMasoomeh Sobhani - Prevention Department, Talesh Welfare Center, Gilan province, IranKimia Kahrizi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranNicole C Meyer - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United StatesGuy Van Camp - Department of Medical Genetics, University of Antwerp (UA), Antwerp, BelgiumNele Hilgert - Department of Medical Genetics, University of Antwerp (UA), Antwerp, BelgiumSeyedeh Sedigheh Abedini - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranFarkhondeh Habibi - Prevention Department, Rasht Welfare Center, Gilan province, IranAhmad Daneshi - Research Center of Ear, Nose, Throat, Head and Neck Surgery, Iran university of Medical sciences, Tehran, IranCarla Nishimura - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United StatesMatthew R Avenarius - Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USAMohammad Farhadi - Research Center of Ear, Nose, Throat, Head and Neck Surgery, Iran university of Medical sciences, Tehran, IranRichard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, United StatesHossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.155(5), pp.1202-1211
- DOI
- 10.1002/ajmg.a.33209
- PMID
- 21484990
- PMCID
- PMC3080436
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Grant note
- DOI: 10.13039/501100003968, name: Iranian National Science Foundation, award: 85073/23, 85033/10; name: National Institutes of Health (NIH)-NIDCD, award: RO1 DCOO2842, RO1 DCO3544
- Language
- English
- Date published
- 05/2011
- 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
- 9984006434102771
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