NDLI: Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Schloss, M. Wilcox, E. R. Friedman, T. B. Ramesh, A. Wayne, S. Riazuddin, S. Nance, W. E. Peters, L. M. Liu, X. Z. Griffith, A. J. Bork, J. M. Bitner-Glindzicz, M. Kaloustian, V. M. Khan, S. N. Ahmed, Z. M. Desmukh, D. Bernstein, S. L. Li, X. C. Smith, R. J. Lalwani, A. Srisailpathy, C. R. Wistow, G. Polomeno, R. Bellman, S. Morell, R. J. Ness, S. L. Ahmed, Z.
Description	Country affiliation: United States Author Affiliation: Bork JM ( Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.)
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, approximately 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.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	1
Volume Number	68
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2001-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Alleles Cadherins Genetics Deafness Genes, Recessive Hearing Loss, Sensorineural Mutation Retinitis Pigmentosa Amino Acid Sequence Chromosome Mapping Consanguinity Dna Mutational Analysis Dna Primers Exons Gene Frequency Introns Lod Score Pedigree Rna, Messenger Syndrome Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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