Source:http://linkedlifedata.com/resource/pubmed/id/11875055
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
2002-3-4
|
| pubmed:abstractText |
X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision or photopic (cone) system with preservation of night vision or scotopic (rod) function. The disease presents with a triad of photophobia, loss of color vision and reduced central vision. This phenotype is distinct from retinitis pigmentosa (RP) in which there are prominent night and peripheral vision disturbances. X-linked cone dystrophy is a genetically heterogeneous disorder, with linkage to loci on Xp11.4--Xp21.1 (COD1, OMIM 304020) and Xq27 (COD2, OMIM 303800). COD1 maps to a region that harbors the RPGR gene, mutations in which account for >70% of patients with X-linked RP. The majority of these mutations reside in one purine-rich exon, ORF15, encoding 567 amino acids with a repetitive domain rich in glutamic acid residues. We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two distinct mutations in ORF15 in the RPGR gene (ORF15+1343_1344delGG and ORF15+694_708del15) leading to a frame-shift and premature termination of translation in one case and a deletion of five amino acids in another. Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0964-6906
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
11
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
605-11
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:11875055-Amino Acid Sequence,
pubmed-meshheading:11875055-Base Sequence,
pubmed-meshheading:11875055-Carrier Proteins,
pubmed-meshheading:11875055-Color Vision Defects,
pubmed-meshheading:11875055-Eye Proteins,
pubmed-meshheading:11875055-Glutamic Acid,
pubmed-meshheading:11875055-Heterozygote,
pubmed-meshheading:11875055-Humans,
pubmed-meshheading:11875055-Male,
pubmed-meshheading:11875055-Mutation,
pubmed-meshheading:11875055-Open Reading Frames,
pubmed-meshheading:11875055-Pedigree,
pubmed-meshheading:11875055-Photophobia,
pubmed-meshheading:11875055-Retinal Cone Photoreceptor Cells,
pubmed-meshheading:11875055-Retinal Degeneration,
pubmed-meshheading:11875055-Sequence Deletion,
pubmed-meshheading:11875055-Visual Fields,
pubmed-meshheading:11875055-X Chromosome
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Mutations in the RPGR gene cause X-linked cone dystrophy.
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| pubmed:affiliation |
Cole Eye Institute, I-31, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|