RGD Reference Report - A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. - Rat Genome Database

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A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Authors: Chen, ZY  Battinelli, EM  Fielder, A  Bundey, S  Sims, K  Breakefield, XO  Craig, IW 
Citation: Chen ZY, etal., Nat Genet. 1993 Oct;5(2):180-3.
RGD ID: 8694209
Pubmed: PMID:8252044   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1093-180   (Journal Full-text)

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NDPHumanX-linked exudative vitreoretinopathy 2  IAGP DNA:missense mutation: :p.L124F (human)RGD 
NdpMouseX-linked exudative vitreoretinopathy 2  ISONDP (Homo sapiens)DNA:missense mutation: :p.L124F (human)RGD 
NdpRatX-linked exudative vitreoretinopathy 2  ISONDP (Homo sapiens)DNA:missense mutation: :p.L124F (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ndp  (norrin cystine knot growth factor NDP)

Genes (Mus musculus)
Ndp  (Norrie disease (pseudoglioma) (human))

Genes (Homo sapiens)
NDP  (norrin cystine knot growth factor NDP)


Additional Information