title: Putative association of a mutant ROM1 allele with retinitis pigmentosa.
abstract: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double-mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double-mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that question the potential pathogenicity of these two ROM1 mutations.
authors.affiliation: Departament de Genètica, Facultat de Biologia Universitat de Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Mir
authors.forename: C
authors.initials: C
authors.lastname: Vilela
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: L
authors.initials: L
authors.lastname: Dain
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
authors.forename: M
authors.initials: M
authors.lastname: Marco
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000737:chemistry*; D059470:Tetraspanins
chemical_list: D005136:Eye Proteins; D008565:Membrane Proteins; C513106:ROM1 protein, human; D059470:Tetraspanins