Article
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
American journal of human genetics - 8 Aug 2013
Davidson Alice E, Schwarz Nele, Zelinger Lina, Stern-Schneider Gabriele, Shoemark Amelia, Spitzbarth Benjamin, Gross Menachem, Laxer Uri, Sosna Jacob, Sergouniotis Panagiotis I, Waseem Naushin H, Wilson Robert, Kahn Richard A, Plagnol Vincent, Wolfrum Uwe, Banin Eyal, Hardcastle Alison J, Cheetham Michael E, Sharon Dror, Webster Andrew R
Abstract excerpt
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.