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.


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



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


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


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


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.

Update: Sept. 26, 2018