Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

@article{Ahmed2002NonsyndromicRD,
  title={Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC},
  author={Z M Ahmed and Tenesha N. Smith and Saima Riazuddin and Tomoko Makishima and Manju Ghosh and Sirosh M Bokhari and Puthezhath S N Menon and Dilip Deshmukh and Andrew J. Griffith and S. Amer Riazuddin and Thomas B Friedman and E. R. Wilcox},
  journal={Human Genetics},
  year={2002},
  volume={110},
  pages={527-531}
}
Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G→C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness (DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G… CONTINUE READING
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Muta - tions in the novel protocadherin PCDH 15 cause Usher syndrome type 1 F

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1 Excerpt

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

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  • Am J Hum Genet
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