title: Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
abstract: X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001.
authors.affiliation: Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA.
authors.forename: M
authors.initials: M
authors.lastname: Guevara-Fujita
authors.forename: S
authors.initials: S
authors.lastname: Fahrner
authors.forename: K
authors.initials: K
authors.lastname: Buraczynska
authors.forename: J
authors.initials: J
authors.lastname: Cook
authors.forename: D
authors.initials: D
authors.lastname: Wheaton
authors.forename: F
authors.initials: F
authors.lastname: Cortes
authors.forename: C
authors.initials: C
authors.lastname: Vicencio
authors.forename: M
authors.initials: M
authors.lastname: Pena
authors.forename: G
authors.initials: G
authors.lastname: Fishman
authors.forename: H
authors.initials: H
authors.lastname: Mintz-Hittner
authors.forename: D
authors.initials: D
authors.lastname: Birch
authors.forename: D
authors.initials: D
authors.lastname: Hoffman
authors.forename: A
authors.initials: A
authors.lastname: Mears
authors.forename: R
authors.initials: R
authors.lastname: Fujita
authors.forename: A
authors.initials: A
authors.lastname: Swaroop
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human; D004247:DNA