RGD Reference Report - Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. - Rat Genome Database

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Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

Authors: Deybach, JC  Puy, H  Robreau, AM  Lamoril, J  Da Silva, V  Grandchamp, B  Nordmann, Y 
Citation: Deybach JC, etal., Hum Mol Genet. 1996 Mar;5(3):407-10.
RGD ID: 1599172
Pubmed: PMID:8852667   (View Abstract at PubMed)

Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity. The molecular defect responsible for VP was investigated by sequencing PPOX gene coding sequence from four patients in three unrelated VP families of French Caucasian origin. In a first patient, a point insertion of a G at position 1022 of the cDNA, produced a frameshift resulting in a premature stop codon. In three other patients from two unrelated families we found a missense point mutation leading to glycine to arginine substitution (G232R) in exon 7. This Gly232 appears to be a strictly conserved residue through evolution. In one VP family, we observed the cosegregation of the G232R missense mutation and the deficient PPOX activity. The mutations reported here are the first to be described in patients with VP and support the conclusion that PPOX gene defects are disease causing mutations in human variegate porphyria.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
PPOXHumanHepatic Porphyrias  IAGP DNA:missense mutation:cds:p.G232R (human)RGD 
PpoxRatHepatic Porphyrias  ISORGD:1321506DNA:missense mutation:cds:p.G232R (human)RGD 
PpoxMouseHepatic Porphyrias  ISORGD:1321506DNA:missense mutation:cds:p.G232R (human)RGD 


Genes (Rattus norvegicus)
Ppox  (protoporphyrinogen oxidase)

Genes (Mus musculus)
Ppox  (protoporphyrinogen oxidase)

Genes (Homo sapiens)
PPOX  (protoporphyrinogen oxidase)