Article
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Molecular vision - 8 Sept 2009
Isosomppi Juha, Västinsalo Hanna, Geller Scott F, Heon Elise, Flannery John G, Sankila Eeva-Marja
Abstract excerpt
PURPOSE: Mutations of clarin 1 (CLRN1) cause Usher syndrome type 3 (USH3). To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro. We also searched for novel disease-causing mutations in a cohort of 59 unrelated Canadian and Finnish USH patients. METHODS: Mutation screening was performed by DNA sequencing. For the...
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