Journal article
New gene for autosomal recessive non‐syndromic hearing loss maps to either chromosome 3q or 19p
American journal of medical genetics, Vol.71(4), pp.467-471
09/05/1997
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<467::AID-AJMG18>3.0.CO;2-E
PMID: 9286457
Abstract
Autosomal recessive non‐syndromic hearing loss (ARNSHL) is the most common form of prelingual inherited hearing impairment. A small consanguineous family with this disorder was ascertained through the Institute of Basic Medical Sciences in Madras, India. Conditions such as rubella, prematurity, drug use during pregnancy, perinatal trauma, and meningitis were eliminated by history. Audiometry was performed to confirm severe‐to‐profound hearing impairment in affected persons. After excluding linkage to known DFNB genes, two genomic DNA pools, one from the affected persons and the other from their non‐affected siblings and the parents, were used to screen 165 polymorphic markers evenly spaced across the autosomal human genome. Two regions showing homozygosity‐by‐descent in the affected siblings were identified on chromosomes 3q21.3‐q25.2 and 19p13.3‐p13.1, identifying one (or possibly both) as the site of a novel ARNSHL gene. Am. J. Med. Genet. 71:467–471, 1997. © 1997 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- New gene for autosomal recessive non‐syndromic hearing loss maps to either chromosome 3q or 19p
- Creators
- Achih ChenSigrid WayneAdam BellArabandi RameshC.R. Srikumari SrisailapathyDaryl A ScottVal C SheffieldPeter Van HauweRoss I. S ZbarJennifer AshleyMichael LovettGuy Van CampRichard J. H Smith
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.71(4), pp.467-471
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; New York
- DOI
- 10.1002/(SICI)1096-8628(19970905)71:4<467::AID-AJMG18>3.0.CO;2-E
- PMID
- 9286457
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Number of pages
- 5
- Grant note
- National Institute on Deafness and Other Communication Disorders, National Institutes of Health (1RO1 DC02842‐01)
- Language
- English
- Date published
- 09/05/1997
- 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; Medical Genetics and Genomics; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9984006457202771
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