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.
Pubmed ID: 11090341 RIS Download
Mesh terms: Alleles | Amino Acid Sequence | Base Sequence | Cadherins | Chromosome Mapping | Consanguinity | DNA Mutational Analysis | DNA Primers | Deafness | Exons | Female | Gene Frequency | Genes, Recessive | Hearing Loss, Sensorineural | Humans | Introns | Lod Score | Male | Mutation | Pedigree | RNA, Messenger | Retinitis Pigmentosa | Syndrome
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