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Pubmed ID :22815625
Publication Date : //

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.


PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). The purpose of this work was to perform PCDH15 mutation screening to identify the genetic cause of the disease in a cohort of Spanish patients with Usher syndrome type I and establish phenotype-genotype correlation.

Authors : Jaijo Teresa , Oshima Aki , Aller Elena , Carney Carol , Usami Shin-ichi , Millán José M , Kimberling William J ,

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