title: Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.
abstract: Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous form of retinal degeneration. The genes for the beta-subunit of rod phosphodiesterase (PDEB), rhodopsin (RHO), peripherin/RDS (RDS) and the rod outer segment membrane protein 1 (ROM1), as well as loci at 6p and 1q, have previously been reported as the cause of ARRP. In order to determine whether they are responsible for the disease in Spanish pedigrees, linkage and homozygosity studies using markers at these loci were carried out on 47 Spanish ARRP families. SSCP analysis was performed to search for mutations in the genes cosegregating with the disease in particular pedigrees. Three homozygous mutations in the PDEB gene were found, thus accounting for 6% of the cases. No other disease-causing mutation was observed in the other genes analysed, nor was significant evidence found for the involvement of the loci at 6p or 1q. On the basis of these data, it is unlikely that these genes and loci account for a considerable proportion of ARRP cases.
authors.affiliation: Departament de Genètica, Facultat de Biologia Universitat de Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Mir
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: E
authors.initials: E
authors.lastname: del Río
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D005136:Eye Proteins / Q000235:genetics*; D005796:Genes; D005808:Genes, Recessive; D051604:Guanylate Cyclase-Activating Proteins; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins; D064531:Peripherins; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain; D059470:Tetraspanins
chemical_list: D002135:Calcium-Binding Proteins; D005136:Eye Proteins; D051604:Guanylate Cyclase-Activating Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C513106:ROM1 protein, human; D059470:Tetraspanins; D012243:Rhodopsin; D010727:Phosphoric Diester Hydrolases