Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013)

• Record Type: Journal Article
• Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de, Elfride; Bennett, Jean; Chader, Gerald J.; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den, Anneke I.; Klaver, Caroline C.W.; Klevering, B. Jeroen; Lorenz, Birgit; Preising, Markus N.; Ramsear, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger], Bernd; Qamar, Raheel; Webster, Andrew R.; Cremers, Frans P.M.; Moore, Anthony T.; Koenekoop, Robert K.;
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1537
• Page End: 1546
• Publication Date: 2013-09-17
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22398
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22398-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>With an international <italic>LCA5</italic> consortium, our goal was to identify LCA and RP patients with <italic>LCA5</italic> mutations in preparation for a phase 1 clinical trial to test <italic>LCA5</italic> gene replacement. This effort was successful in identifying 18 new LCA patients, novel mutations, and intact foveal cones, boding well for our trial.<boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prnh8" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>