Point mutations in the uroporphyrinogen III synthase gene in congenital
erythropoietic porphyria (Gunther's disease)
JC Deybach, H de Verneuil, S Boulechfar, B Grandchamp and Y Nordmann
Laboratoire de Biochimie, Hopital Louis Mourier, Colombes, France.
Congenital erythropoietic porphyria (Gunther's disease) is a rare disorder
of heme biosynthesis inherited in an autosomal recessive fashion. The
molecular abnormality responsible for the characteristic defect in
uroporphyrinogen III synthase activity was investigated in two patients.
For the first patient, complementary DNA was specifically amplified using
the polymerase chain reaction and subsequently cloned and sequenced. Data
obtained revealed the coexistence of two distinct point mutations: a T to C
change in codon 73 (arginine in place of a cysteine) and a C to T change in
codon 53 (leucine in place of a proline). The second case was studied by
hybridization with allele specific oligonucleotides and was found to be
homozygous for the same mutation in codon 53. These are the first mutations
to be recognized in the uroporphyrinogen III synthase gene from congenital
erythropoietic porphyria patients.
Volume 75,
Issue 9,
pp. 1763-1765,
05/01/1990
Copyright © 1990 by The American Society of Hematology
