Putative association of a mutant ROM1 allele with retinitis pigmentosa.

MARTINEZ-MIR A.; VILELA, C.; BAYES M.; VALVERDE D.; DAIN L.; BENEYTO M.; BAIGET M.; GRINBERG D.; BALCELLS S.; GONZÁLEZ-DUARTE R.; VILAGELIU L.

HUMAN GENETICS.

Springer-Verlag Eds

Año: 1997 vol. 99 p. 827 - 830

0340-6717

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.