Ontology highlight
ABSTRACT:
SUBMITTER: Davidson AE
PROVIDER: S-EPMC3738823 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Davidson Alice E AE Schwarz Nele N Zelinger Lina L Stern-Schneider Gabriele G Shoemark Amelia A Spitzbarth Benjamin B Gross Menachem M Laxer Uri U Sosna Jacob J Sergouniotis Panagiotis I PI Waseem Naushin H NH Wilson Robert R Kahn Richard A RA Plagnol Vincent V Wolfrum Uwe U Banin Eyal E Hardcastle Alison J AJ Cheetham Michael E ME Sharon Dror D Webster Andrew R AR
American journal of human genetics 20130711 2
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 inversus, a homozygous, splice-acceptor mutation, c.101-1G>C, which alters pre-mRNA splici ...[more]