Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Usher syndrome 1F

Usher syndrome type 1F is caused by mutations of the PCDH15 gene inheritance is autosomal recessive. It characterized by hearing loss and retinitis pigmentosa.

Systematic

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

References:

1.

Ahmed ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

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2.

Rebibo-Sabbah A et al. (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.

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3.

Ahmed ZM et al. (2008) Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

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4.

Chance MR et al. (2010) Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.

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5.

OMIM.ORG article

Omim 602083 [^]
Update: April 29, 2019