Journal article
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
Human molecular genetics, Vol.4(9), pp.1643-1648
09/1995
DOI: 10.1093/hmg/4.9.1643
PMID: 8541854
Abstract
Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).
Details
- Title: Subtitle
- Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
- Creators
- Kunihiro Fukushima - University of IowaArabandi Ramesh - University of MadrasC.R.Srikumari Srisailapathy - University of MadrasLi Ni - University of IowaAchih Chen - OtolaryngologyMarsha O'Neill - University of IowaGuy Van Camp - University of AntwerpPaul Coucke - University of AntwerpShelley D Smith - Boys Town National Research HospitalJudith B Kenyon - Boys Town National Research HospitalPawain Jain - National Institutes of HealthEd.R Wilcox - National Institutes of HealthRoss I S Zbar - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of lowa, lowa City, IA, 52242, USA, Madras, India, 2610 Antwerpen, Belgium, Omaha, NE, Rockville, MD, USARichard J H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of lowa, lowa City, IA, 52242, USA, Madras, India, 2610 Antwerpen, Belgium, Omaha, NE, Rockville, MD, USA
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.4(9), pp.1643-1648
- DOI
- 10.1093/hmg/4.9.1643
- PMID
- 8541854
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Publisher
- Oxford University Press
- Language
- English
- Date published
- 09/1995
- 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
- 9984256838102771
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