Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Usher syndrome 1D/F

Usher syndrome type 1D/F is a digenic disorder caused by mutations of the CDH23 and PCDH15 genes inheritance is autosomal recessive. It characterized by hearing loss and retinitis pigmentosa.

Systematic

Usher syndrome
Usher syndrome 1D
Usher syndrome 1D/F
CDH23
PCDH15
Usher syndrome 1F

References:

1.

Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

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2.

Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

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3.

Di Palma F et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

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4.

Bolz H et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

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5.

Möller CG et al. (1989) Usher syndrome: an otoneurologic study.

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6.

Wayne S et al. (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

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7.

OMIM.ORG article

Omim 601067 [^]
Update: April 29, 2019