Four novel mutations of the coproporphyrinogen III oxidase gene

C Aurizi; G Lupia Palmieri; L Barbieri; A Macrì; F Sorge; G Usai; G Biolcati

Four novel mutations of the coproporphyrinogen III oxidase gene

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):15-8.

Authors

C Aurizi¹, G Lupia Palmieri, L Barbieri, A Macrì, F Sorge, G Usai, G Biolcati

Affiliation

¹ Porphyria and Hereditary Metabolic Diseases Center San Gallicano Institute, I.F.O., IRCCS Rome Italy. aurizi@commat.ifo.it

PMID: 19267996

Abstract

Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). Three of the novel genetic variants are missense mutations (p.Gly242Cys; p.Leu398Pro; p.Ser245Phe) and one is a frameshift mutation (p.Gly188TrpfsX45).

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
Coproporphyria, Hereditary / genetics*
Coproporphyrinogen Oxidase / genetics*
DNA Mutational Analysis
Female
Frameshift Mutation / genetics
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation / genetics*
Mutation, Missense / genetics
Pedigree
Polymerase Chain Reaction
Sequence Analysis, DNA
Young Adult

Substances

Coproporphyrinogen Oxidase