Gene Review:
PCDH15 - protocadherin-related 15
Homo sapiens
Synonyms:
CDHR15, DFNB23, Protocadherin-15, USH1F
- The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Brownstein, Z., Ben-Yosef, T., Dagan, O., Frydman, M., Abeliovich, D., Sagi, M., Abraham, F.A., Taitelbaum-Swead, R., Shohat, M., Hildesheimer, M., Friedman, T.B., Avraham, K.B. Pediatr. Res. (2004)
- A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. Ben-Yosef, T., Ness, S.L., Madeo, A.C., Bar-Lev, A., Wolfman, J.H., Ahmed, Z.M., Desnick, R.J., Willner, J.P., Avraham, K.B., Ostrer, H., Oddoux, C., Griffith, A.J., Friedman, T.B. N. Engl. J. Med. (2003)
- Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Rouget-Quermalet, V., Giustiniani, J., Marie-Cardine, A., Beaud, G., Besnard, F., Loyaux, D., Ferrara, P., Leroy, K., Shimizu, N., Gaulard, P., Bensussan, A., Schmitt, C. Oncogene (2006)
- Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Ahmed, Z.M., Riazuddin, S., Bernstein, S.L., Ahmed, Z., Khan, S., Griffith, A.J., Morell, R.J., Friedman, T.B., Riazuddin, S., Wilcox, E.R. Am. J. Hum. Genet. (2001)
- Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Astuto, L.M., Weston, M.D., Carney, C.A., Hoover, D.M., Cremers, C.W., Wagenaar, M., Moller, C., Smith, R.J., Pieke-Dahl, S., Greenberg, J., Ramesar, R., Jacobson, S.G., Ayuso, C., Heckenlively, J.R., Tamayo, M., Gorin, M.B., Reardon, W., Kimberling, W.J. Am. J. Hum. Genet. (2000)
- Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Zheng, Q.Y., Yan, D., Ouyang, X.M., Du, L.L., Yu, H., Chang, B., Johnson, K.R., Liu, X.Z. Hum. Mol. Genet. (2005)
- Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. Roux, A.F., Faugère, V., Le Guédard, S., Pallares-Ruiz, N., Vielle, A., Chambert, S., Marlin, S., Hamel, C., Gilbert, B., Malcolm, S., Claustres, M. J. Med. Genet. (2006)
- Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Le Guédard, S., Faugère, V., Malcolm, S., Claustres, M., Roux, A.F. Mol. Vis. (2007)
- Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Alagramam, K.N., Yuan, H., Kuehn, M.H., Murcia, C.L., Wayne, S., Srisailpathy, C.R., Lowry, R.B., Knaus, R., Van Laer, L., Bernier, F.P., Schwartz, S., Lee, C., Morton, C.C., Mullins, R.F., Ramesh, A., Van Camp, G., Hageman, G.S., Woychik, R.P., Smith, R.J., Hagemen, G.S. Hum. Mol. Genet. (2001)
- PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Ahmed, Z.M., Riazuddin, S., Ahmad, J., Bernstein, S.L., Guo, Y., Sabar, M.F., Sieving, P., Riazuddin, S., Griffith, A.J., Friedman, T.B., Belyantseva, I.A., Wilcox, E.R. Hum. Mol. Genet. (2003)
- Histopathologic features of the temporal bone in usher syndrome type I. Wagenaar, M., Schuknecht, H., Nadol, J., Benraad-Van Rens, M., Pieke-Dahl, S., Kimberling, W., Cremers, C. Arch. Otolaryngol. Head Neck Surg. (2000)
- Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Reiners, J., Märker, T., Jürgens, K., Reidel, B., Wolfrum, U. Mol. Vis. (2005)