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.
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.[^]
OMIM.ORG articleOmim 602083 [^]