title: Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.
abstract: The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the presence of a catalytically-defective but immunologically-reactive enzyme. Our results support the conclusion that the propositus girl may represent the first case of compound heterozygosity for acute intermittent porphyria alleles.
authors: Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
authors: C
authors: C
authors: Picat
authors: M H
authors: MH
authors: Delfau
authors: F W
authors: FW
authors: de Rooij
authors: G J
authors: GJ
authors: Beukeveld
authors: B G
authors: BG
authors: Wolthers
authors: S K
authors: SK
authors: Wadman
authors: Y
authors: Y
authors: Nordmann
authors: B
authors: B
authors: Grandchamp
mesh_terms: D000208:Acute Disease; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D011164:Porphyrias / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; D011163:Hydroxymethylbilane Synthase