PMID: 8946173Jan 1, 1996Paper

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

European Journal of Human Genetics : EJHG
A FontanellasCécile Ged

Abstract

Congenital erythropoietic porphyria (CEP) or Günther's disease is an inborn error of heme biosynthesis, transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase activity (UROIIIS). The molecular defects observed in CEP are mainly heterogeneous, except for one missense mutation, C73R (Cys to Arg substitution at codon 73) which represents nearly 40% of the disease alleles. A convenient strategy was designed to establish a rapid diagnosis at the genetic level in samples from patients with CEP. As a first step, the most frequent mutation is searched for by restriction analysis from genomic. DNA amplified by PCR. Next, the nine coding exons and intron-exon boundaries are sequenced from genomic DNA. As an alternative, the mutation can be determined by sequencing the UROIIIS cDNA of the patient, using the RT-PCR technique on RNAs when a lymphoblastoid cell line can be established. Finally, for each new mutation in UROIIIS coding sequence, the corresponding mutant protein is expressed in Escherichia coli, in order to demonstrate the pathological significance of the mutation. This work describes the analysis of UROIIIS gene mutations in 10 new families with CEP and summarize...Continue Reading

Citations

May 2, 2003·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·F GéronimiH de Verneuil
Feb 22, 2012·Molecular Biology Reports·Meysam MoghbeliMohammad Reza Abbaszadegan
Dec 3, 1999·The British Journal of Dermatology·A Herrera Saval, A Moruno Tirado
Feb 15, 2001·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·F Daïkha-DahmaneF Muller
Jun 13, 2002·British Journal of Haematology·Robert J Desnick, Kenneth H Astrin
Sep 8, 2006·British Journal of Haematology·Shigeru Sassa
Aug 10, 2007·The New England Journal of Medicine·Nirmala HallaiMichael N Badminton
Feb 24, 2011·The Journal of Biological Chemistry·Arola FortianOscar Millet
Nov 6, 2014·Metabolites·Siddesh BesurHerbert L Bonkovsky
Aug 14, 2002·Mayo Clinic Proceedings·Iftikhar Ahmed

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