Putative association of a mutant ROM1 allele with retinitis pigmentosa |
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| Authors: | Amalia Martínez-Mir Concha Vilela Mònica Bayés Diana Valverde L Dain Magdalena Beneyto Marina Marco Montserrat Baiget Daniel Grinberg Susana Balcells Roser Gonzàlez-Duarte Lluïsa Vilageliu |
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| Institution: | (1) Departament de Genètica, Facultat de Biologia Universitat de Barcelona, Av. Diagonal 645, E-08071 Barcelona, Spain Fax:+34-3-411-09-69; e-mail: lluisa@porthos.bio.ub.es, ES;(2) Servicio de Neurofisiología, Hospital Universitario “La Fe”, E-46009 Valencia, Spain, ES;(3) Unitat de Genètica Molecular, Hospital de la Santa Creu i Sant Pau, E-08025 Barcelona, Spain, ES;(4) Unidad de Genética, Hospital Universitario “La Fe”, E-46009 Valencia, Spain, ES;(5) Servicio de Oftalmología, Hospital Clínico Universitario, Valencia, Spain, ES |
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| 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.
Received: 30 July 1996 / Revised: 13 December 1996 |
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