USHER SYNDROME COALITION
IN THE NEWS
Disease Category: autosomal recessive
Known Clinical Trials: None known
Treatment Options: Cochlear Implants (hearing)
Strategies to Preserve Eye Health: lutein
Institution(s) Conducting Research: Univ of Edinburgh, Royal Free Hospital (London), Univ of Michigan, MRC Institute of Genetics and Molecular Medicine (Edinburgh), Princess Alexandra Eye Pavilion (Edinburgh)
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
Isosomppi, J., Västinsalo, H., Geller, S. F., Heon, E., Flannery, J. G., & Sankila, E. M., Molecular Vision, 15, 1806–1818, 2009.
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.
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.
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.
CLRN1 mutations cause nonsyndromic retinitis pigmentosa
Muhammad Imran Khan, Ferry Kersten, Maleeha Azam, Rob Collin, Alamdar Hussain, Syed Tahir-A Shah, Jan Keunen, Hannie Kremer, Frans Cremers, Raheel Qamar, Anneke den Hollander | Ophthalmology | 2011 Jul 1 | Vol.18 Iss 7 |1444-8 | doi: 10.1016/j.ophtha.2010.10.047
Objective: To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa (arRP). Participants: Affected and unaffected individuals of 2 consanguineous Pakistani families and 90 unaffected controls from the same population. Informed consent was obtained from participants and the protocol was approved by a local institutional review board.
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