Putative association of a mutant ROM1 allele with retinitis pigmentosa.
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.
Martínez-Mir
A
A
Departament de Genètica, Facultat de Biologia Universitat de Barcelona, Spain.
Vilela
C
C
Bayés
M
M
Valverde
D
D
Dain
L
L
Beneyto
M
M
Marco
M
M
Baiget
M
M
Grinberg
D
D
Balcells
S
S
Gonzàlez-Duarte
R
R
Vilageliu
L
L
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
D005136:Eye Proteins; D008565:Membrane Proteins; C513106:ROM1 protein, human; D059470:Tetraspanins