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 puta...
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1997
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03406717_v99_n6_p827_MartinezMir http://hdl.handle.net/20.500.12110/paper_03406717_v99_n6_p827_MartinezMir |
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paper:paper_03406717_v99_n6_p827_MartinezMir2023-06-08T15:34:08Z Putative association of a mutant ROM1 allele with retinitis pigmentosa membrane protein mutant protein article case report controlled study female gene mutation genetic heterogeneity human human cell priority journal retina rod outer segment retinitis pigmentosa Adolescent Adult Alleles Eye Proteins Female Humans Male Membrane Proteins Middle Aged Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Retinitis Pigmentosa Rod Outer Segments 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. 1997 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03406717_v99_n6_p827_MartinezMir http://hdl.handle.net/20.500.12110/paper_03406717_v99_n6_p827_MartinezMir |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
membrane protein mutant protein article case report controlled study female gene mutation genetic heterogeneity human human cell priority journal retina rod outer segment retinitis pigmentosa Adolescent Adult Alleles Eye Proteins Female Humans Male Membrane Proteins Middle Aged Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Retinitis Pigmentosa Rod Outer Segments |
| spellingShingle |
membrane protein mutant protein article case report controlled study female gene mutation genetic heterogeneity human human cell priority journal retina rod outer segment retinitis pigmentosa Adolescent Adult Alleles Eye Proteins Female Humans Male Membrane Proteins Middle Aged Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Retinitis Pigmentosa Rod Outer Segments Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| topic_facet |
membrane protein mutant protein article case report controlled study female gene mutation genetic heterogeneity human human cell priority journal retina rod outer segment retinitis pigmentosa Adolescent Adult Alleles Eye Proteins Female Humans Male Membrane Proteins Middle Aged Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Retinitis Pigmentosa Rod Outer Segments |
| description |
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. |
| title |
Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| title_short |
Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| title_full |
Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| title_fullStr |
Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| title_full_unstemmed |
Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| title_sort |
putative association of a mutant rom1 allele with retinitis pigmentosa |
| publishDate |
1997 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03406717_v99_n6_p827_MartinezMir http://hdl.handle.net/20.500.12110/paper_03406717_v99_n6_p827_MartinezMir |
| _version_ |
1768544732369125376 |