title: Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
abstract: OBJECTIVE
  The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease.
  
  
  METHODS
  Haplotype analysis was performed, to determine whether the disease is linked to the RP3 or RP2 region. In those families in which the disease cosegregates with either locus, mutational screening was performed. The RP2 gene, the first 15 exons of RPGR at the cDNA level, and the open reading frame (ORF) 14 and 15 exons were screened at the genomic DNA level.
  
  
  RESULTS
  Haplotype analysis ruled out the implication in the disease of RP2 in six families and of RPGR in four families. Among the 30 unrelated XLRP families, there 4 mutations were identified in RP2 (13%), 3 of which are novel, and 16 mutations in RPGR (53.3%), 7 of which are novel.
  
  
  CONCLUSIONS
  In this cohort of XLRP families, as has happened in previous studies, RP3 also seems to be the most prevalent form of XLRP, and, based on the results, the authors propose a four-step protocol for molecular diagnosis of XLRP families.
authors.affiliation: Department of Medical Genetics, Fundación Jiménez Diaz, Madrid, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: García-Hoyos
authors.forename: Blanca
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: Diego
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: Rosa
authors.initials: R
authors.lastname: Riveiro
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: Maria Jose
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: Marta
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: Jose Maria
authors.initials: JM
authors.lastname: Millan
authors.forename: Monserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D019204:GTP-Binding Proteins