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CLRN1

Disease Category: autosomal recessive

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A FACE OF RP

ACADEMIC PAPERS|JOURNAL ARTICLES|PERSONAL STORIES

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane

CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development

Scott F. Geller, Karen I. Guerin, Meike Visel, Aaron Pham, Edwin S. Lee, Amiel A. Dror, Karen B. Avraham, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, William J. Triffo, Shaowen Bao,​ John G. Flannery, PLOS Genetics, Vol. 5(8), Published 14 Aug, 2009.

https://doi.org/10.1371/journal.pgen.1000607

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.

Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synapses of photoreceptors and cochlear hair cells, and recently demonstrated to be associated with the cytoskeleton. 

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