Review
doi: 10.1002/ajmg.a.30053.
Clinical application of genetic testing for deafness
Affiliations
- PMID: 15368487
- DOI: 10.1002/ajmg.a.30053
Item in Clipboard
Review
Clinical application of genetic testing for deafness
Am J Med Genet A.
.
Abstract
Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed.
Copyright 2004 Wiley-Liss, Inc.
Similar articles
-
Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.J Commun Disord. 2002 Jul-Aug;35(4):367-77. doi: 10.1016/s0021-9924(02)00091-6. J Commun Disord. 2002. PMID: 12160355
-
[Epidemiological analysis of GJB2,SLC26A4,mtRNA,GJB3 in nonsyndromic hearing loss in Kashi in Xinjiang].Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017 Apr 20;31(8):619-622. doi: 10.13201/j.issn.1001-1781.2017.08.012. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017. PMID: 29871328 Chinese.
-
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.Clin Genet. 2005 Dec;68(6):506-12. doi: 10.1111/j.1399-0004.2005.00539.x. Clin Genet. 2005. PMID: 16283880
-
The responsible genes in Japanese deafness patients and clinical application using Invader assay.Acta Otolaryngol. 2008 Apr;128(4):446-54. doi: 10.1080/00016480701785046. Acta Otolaryngol. 2008. PMID: 18368581 Review.
-
[Molecular diagnosis of deafness].Nihon Rinsho. 2011 Feb;69(2):357-67. Nihon Rinsho. 2011. PMID: 21387690 Review. Japanese.
Cited by
-
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.Am J Hum Genet. 2006 Jan;78(1):137-43. doi: 10.1086/499164. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385457 Free PMC article.
-
Attitudes to genetic testing for deafness: the importance of informed choice.J Genet Couns. 2006 Feb;15(1):51-9. doi: 10.1007/s10897-005-9003-6. J Genet Couns. 2006. PMID: 16525898
-
Recent advances in genetic etiology of non-syndromic deafness in children.Front Neurosci. 2023 Oct 19;17:1282663. doi: 10.3389/fnins.2023.1282663. eCollection 2023. Front Neurosci. 2023. PMID: 37928735 Free PMC article. Review.
-
DTI study on rehabilitation of the congenital deafness auditory pathway and speech center by cochlear implantation.Eur Arch Otorhinolaryngol. 2019 Sep;276(9):2411-2417. doi: 10.1007/s00405-019-05477-7. Epub 2019 May 24. Eur Arch Otorhinolaryngol. 2019. PMID: 31127414 Free PMC article.
-
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.J Transl Med. 2012 Nov 14;10:225. doi: 10.1186/1479-5876-10-225. J Transl Med. 2012. PMID: 23151025 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
