Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Visual function | Usher syndrome
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management |
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Therapies under research |
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Further information |
Additional information
PCDH15 mutations can cause both Usher syndrome type 1F[4] or non-syndromic autosomal recessive hearing loss (DFNB23).[5] There is evidence of a genotype–phenotype correlation; missense variants are primarily associated with non-syndromic deafness, whereas frameshift, nonsense and splice site mutations cause Usher type 1F.[5,6]
References
- Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T. In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum Genet. 2007;122(3-4):373-381
- Nudelman I, Rebibo-Sabbah A, Cherniavsky M, et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem. 2009;52(9):2836-2845
- Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem. 2010;18(11):3735-3746
- Ahmed ZM, Riazuddin S, Bernstein SL, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69(1):25-34
- Ahmed ZM, Riazuddin S, Ahmad J, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;12(24):3215-3223
- Doucette L, Merner ND, Cooke S, et al. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet. 2009;17(5):554-564