Journal article
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel [6]
American Journal of Human Genetics, Vol.57(4), pp.965-968
1995
PMCID: PMC1801487
PMID: 7573061
Abstract
Nonsyndromic deafness accounts for {approximately}70% of all genetically determined deafness. Several types of nonsyndromic deafness, with a variety of inheritance patterns, have been genetically linked, including dominant, recessive and X-linked forms. Two of these forms - DFNA3, a dominant form causing moderate to severe hearing loss, predominantly in the high frequencies, and DFNB1, a recessive form causing profound, prelingual, neurosensory deafness affecting all frequencies - have been linked to the same pericentromeric region of chromosome 13. This finding is equally compatible with (1) the existence two closely linked deafness genes, (2) different mutations within a single deafness gene, and (3) a single mutation in a single gene that behaves differently in different genetic backgrounds. 12 refs., 2 figs., 1 tab.
Details
- Title: Subtitle
- Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel [6]
- Creators
- Daryl A ScottRivka CarmiKhalil ElbedourGeoffrey M DuykEdwin M StoneVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- American Journal of Human Genetics, Vol.57(4), pp.965-968
- PMID
- 7573061
- PMCID
- PMC1801487
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 1995
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979984402771
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