Journal article
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
American journal of human genetics, Vol.68(1), pp.26-37
2001
DOI: 10.1086/316954
PMCID: PMC1234923
PMID: 11090341
Abstract
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the
DFNB12 locus. In a single family, a critical region was defined between
D10S1694 and
D10S1737, ∼0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene,
CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of
CDH23 showed a 9.5-kb transcript expressed primarily in the retina.
CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA.
Details
- Title: Subtitle
- Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
- Creators
- Julie M Bork - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDLinda M Peters - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDSaima Riazuddin - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDSteve L Bernstein - Department of Ophthalmology, University of Maryland School of Medicine, BaltimoreZubair M Ahmed - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDSeth L Ness - Department of Human Genetics and Pediatrics, Mount Sinai Medical Center, New YorkRobert Polomeno - Department of Ophthalmology, McGill University, MontrealArabandi Ramesh - Department of Otolaryngology, University of Iowa, Iowa CityMelvin Schloss - Department of Otolaryngology, McGill University, MontrealC. R. Srikumari Srisailpathy - Department of Otolaryngology, University of Iowa, Iowa CitySigrid Wayne - Department of Otolaryngology, University of Iowa, Iowa CitySusan Bellman - Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Trust, LondonDilip Desmukh - Rotary Deaf School, Ichalkaranji-Tilawani, Maharashtra, IndiaZahoor Ahmed - National Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanShaheen N Khan - National Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanVazken M Der Kaloustian - Department of Pediatrics and Human Genetics, McGill University, MontrealX. Cindy Li - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDAnil Lalwani - Laboratory of Molecular Otology, Epstein Laboratories, San FranciscoSheikh Riazuddin - National Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanMaria Bitner-Glindzicz - Unit of Clinical and Molecular Genetics, Institute of Child Health, LondonWalter E Nance - Department of Human Genetics, Medical College of Virginia, RichmondXue-Zhong Liu - Department of Human Genetics, Medical College of Virginia, RichmondGraeme Wistow - National Eye Institute, National Institutes of Health, BethesdaRichard J.H Smith - Department of Otolaryngology, University of Iowa, Iowa CityAndrew J Griffith - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDEdward R Wilcox - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDThomas B Friedman - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MDRobert J Morell - Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.68(1), pp.26-37
- DOI
- 10.1086/316954
- PMID
- 11090341
- PMCID
- PMC1234923
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 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
- 9984006440202771
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