Journal article
Autosomal recessive nonsyndromic hearing loss
American journal of medical genetics, Vol.89(3), pp.123-129
09/24/1999
DOI: 10.1002/(SICI)1096-8628(19990924)89:3<123::AID-AJMG2>3.0.CO;2-P
PMID: 10704186
Abstract
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual severe to profound or profound hearing impairment. Of the 25 reported loci, most have been identified using single consanguineous families. Six of these genes have been cloned and encode a variety of proteins, including ion channels, extracellular matrix components, cytoskeletal components, and proteins essential for synaptic vesicular trafficking. One of these genes appears to be responsible for approximately 50% of all congenital severe to profound or profound hearing loss in many world populations, and mutations in two other genes can lead to either syndromic or nonsyndromic forms of deafness. The identification of additional genes that cause ARNSHL and elucidation of their function will refine our understanding of auditory physiology at the molecular level. Am. J. Med. Genet. (Semin. Med. Genet.) 89:123–129, 1999. © 2000 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- Autosomal recessive nonsyndromic hearing loss
- Creators
- Rachel A SundstromLut van LaerGuy Van CampRichard J.H Smith
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.89(3), pp.123-129
- DOI
- 10.1002/(SICI)1096-8628(19990924)89:3<123::AID-AJMG2>3.0.CO;2-P
- PMID
- 10704186
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- John Wiley & Sons, Inc; New York
- Number of pages
- 7
- Grant note
- NIH (RO1‐DC02842)
- Language
- English
- Date published
- 09/24/1999
- 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
- 9984006313402771
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