RGD Reference Report - Mutations in the RPGR gene cause X-linked cone dystrophy. - Rat Genome Database

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Mutations in the RPGR gene cause X-linked cone dystrophy.

Authors: Yang, Z  Peachey, NS  Moshfeghi, DM  Thirumalaichary, S  Chorich, L  Shugart, YY  Fan, K  Zhang, K 
Citation: Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11.
RGD ID: 8553227
Pubmed: PMID:11875055   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
X-linked cone-rod dystrophy 1  IAGP 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGG (human)RGD 
X-linked cone-rod dystrophy 1  ISORPGR (Homo sapiens)8553227; 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGG (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal macular morphology  IAGP 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGGRGD 
Color vision defect  IAGP 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGGRGD 
Photophobia  IAGP 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGGRGD 
Reduced visual acuity  IAGP 8553227DNA:deletions:exon:g.47192_47206del15 and g.47841_47842delGGRGD 
Objects Annotated

Genes (Rattus norvegicus)
Rpgr  (retinitis pigmentosa GTPase regulator)

Genes (Mus musculus)
Rpgr  (retinitis pigmentosa GTPase regulator)

Genes (Homo sapiens)
RPGR  (retinitis pigmentosa GTPase regulator)


Additional Information