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Article

Putative association of a mutant ROM1 allele with retinitis pigmentosa.

Human genetics - 1 Jun 1997

Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L

Abstract excerpt

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,...

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Source

Identifiers

PMID: 9187681
DOI: 10.1007/s004390050456

Genes

ROM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Putative association of a mutant ROM1 allele with retinitis pigmentosa.PMID 9187681Read ↗

Mutation analysis of the ROM1 gene in retinitis pigmentosa.Semantic proximity Read ↗

Polymorphisms and rare sequence variants at the ROM1 locus.Semantic proximity Read ↗

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Semantic proximity Read ↗

Retinal Dystrophies Associated with Mutations in the RP1 Gene. Genotype-Phenotype Correlations.Semantic proximity Read ↗

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.Semantic proximity Read ↗

RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western SicilySemantic proximity Read ↗

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.Semantic proximity Read ↗

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.Semantic proximity Read ↗

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.Semantic proximity Read ↗

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.Semantic proximity Read ↗

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