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

@article{Bork2001UsherS1,
  title={Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.},
  author={Jane M Bork and Linda M. L. Peters and Sheikh Riazuddin and Summer L. Bernstein and Zalikha Ahmed and Seth L Ness and R N Viola Polomeno and Arabandi Ramesh and M. Francis Schloss and C. R. Srikumari Srisailpathy and Sigrid Wayne and Sue Bellman and Dilip Desmukh and Z Ahmed and Shaheen N. Khan and Vazken M. der Kaloustian and Xiaoyan Cindy Li and Anil Lalwani and Maria Bitner-Glindzicz and Walter E. Nance and Xue Zhong Liu and Graeme Wistow and Richard J. H. Smith and Andrew J. Griffith and E. R. Wilcox and Thomas B Friedman and Robert J. Morell},
  journal={American journal of human genetics},
  year={2001},
  volume={68 1},
  pages={
          26-37
        }
}
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… CONTINUE READING
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