Genetics of hearing impairment

Stephen W Hone; Richard J.H Smith

doi:10.1053/siny.2001.0094

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Journal article

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Genetics of hearing impairment

Stephen W Hone and Richard J.H Smith

Seminars in neonatology, Vol.6(6), pp.531-541

12/2001

DOI: 10.1053/siny.2001.0094

PMID: 12014894

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Abstract

Our understanding of the genetics of hearing impairment (HI) has advanced rapidly during the last decade. In this review, we focus on HI due to single gene abnormalities, highlighting some of the more common causes of syndromic HI. We also outline the current state of knowledge of the genetics of non-syndromic HI. The most significant clinical advance has been the finding that mutations in GJB2 cause half of moderate-to-profound congenital hereditary deafness in many world populations. The implications of this finding for screening and genetic counseling are discussed.

genetics, hearing impairment, connexin 26, deafness, mutation, syndromic hearing loss, non-syndromic hearing loss

Details

Title: Subtitle: Genetics of hearing impairment
Creators: Stephen W Hone
Richard J.H Smith
Resource Type: Journal article
Publication Details: Seminars in neonatology, Vol.6(6), pp.531-541
DOI: 10.1053/siny.2001.0094
PMID: 12014894
NLM abbreviation: Semin Neonatol
ISSN: 1084-2756
eISSN: 1532-2815
Publisher: Operating Company Elsevier Ltd
Language: English
Date published: 12/2001
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: 9984006321702771

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