PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

@article{Ahmed2003PCDH15IE,
  title={PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.},
  author={Zubair M Ahmed and Saima Riazuddin and Jamil Ahmad and Steve L. Bernstein and Yan Guo and Muhammad Farooq Sabar and Paul A. Sieving and Sheikh Amer Riazuddin and Andrew J. Griffith and Thomas B Friedman and Inna A. Belyantseva and E. R. Wilcox},
  journal={Human molecular genetics},
  year={2003},
  volume={12 24},
  pages={
          3215-23
        }
}
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of this gene result in USH1F. We localized protocadherin 15 to inner ear hair… CONTINUE READING

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