title: RPGR mutation analysis and disease: an update.
abstract: Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the most common single cause of retinitis pigmentosa, accounting for up to 15 to 20% of cases in Caucasians. A total of 240 different RPGR mutations have been reported, including 24 novel ones in this work, which are associated with X-linked retinitis pigmentosa (XLRP) (95%), cone, cone-rod dystrophy, or atrophic macular atrophy (3%), and syndromal retinal dystrophies with ciliary dyskinesia and hearing loss (2%). All disease-causing mutations occur in one or more RPGR isoforms containing the carboxyl-terminal exon open reading frame 15 (ORF15), which are widely expressed but show their highest expression in the connecting cilia of rod and cone photoreceptors. Of reported RPGR mutations, 55% occur in a glutamic acid-rich domain within exon ORF15, which accounts for only 31% of the protein. RPGR forms complexes with a variety of other proteins and appears to have a role in microtubular organization and transport between photoreceptor inner and outer segments.
authors.affiliation: Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Shu
authors.forename: Graeme C
authors.initials: GC
authors.lastname: Black
authors.forename: Jacqueline M
authors.initials: JM
authors.lastname: Rice
authors.forename: Niki
authors.initials: N
authors.lastname: Hart-Holden
authors.forename: Alison
authors.initials: A
authors.lastname: Jones
authors.forename: Anna
authors.initials: A
authors.lastname: O'Grady
authors.forename: Simon
authors.initials: S
authors.lastname: Ramsden
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human