Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

@article{Ahmed2008GeneSA,
  title={Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome},
  author={Z M Ahmed and Saima Riazuddin and Sandar Aye and Rana Amjad Ali and Hanka Venselaar and Saima Anwar and Polina P. Belyantseva and Muhammad Qasim and S. Amer Riazuddin and Thomas B Friedman},
  journal={Human Genetics},
  year={2008},
  volume={124},
  pages={215-223}
}
Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3–11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be… CONTINUE READING

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