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
CDH23 mutations can cause both Usher syndrome type 1D[1] or non-syndromic autosomal recessive hearing loss (DFNB12).[2] There is evidence of a genotype–phenotype correlation; missense variants are primarily associated with non-syndromic deafness or more subtle RP symptoms, whereas frameshift, nonsense and splice site mutations cause Usher type 1D.[2-4] However, missense mutations in CDH23 can also cause milder or ‘atypical’ Usher type 1 and genotype-phenotype correlations are not always predictable.[3]
References
- Bolz H, von Brederlow B, Ramirez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27(1):108-112
- Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68(1):26-37
- Astuto LM, Bork JM, Weston MD, et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002;71(2):262-275
- Schultz JM, Bhatti R, Madeo AC, et al. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011;48(11):767-775