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

作者：Bork JM; Peters LM; Riazuddin S; Bernstein SL; Ahmed ZM; Ness SL; Polomeno R; Ramesh A; Schloss M; Srisailpathy CRS; Wayne S; Bellman S; Desmukh D; Ahmed Z; Khan SN; Kaloustian VMD; Li XC; Lalwani A; Riazuddin S; Bitner Glindzicz M; Nance WE; Liu XZ; Wistow G; Smith RJH; Griffith AJ; Wilcox ER; Friedman TB; Morell RJ^*

来源：American Journal of Human Genetics, 2001, 68(1): 26-37.

DOI：10.1086/316954

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysUSH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive dearness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D1OS173 7, similar to0.55 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.

• 出版日期2001-1