Four novel mutations of the coproporphyrinogen III oxidase gene.

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).

• Authors: C Aurizi, G Lupia Palmieri, L Barbieri, A Macrì, F Sorge, G Usai, G Biolcati
• Journal: Cellular and molecular biology (Noisy-le-Grand, France) (Cell Mol Biol (Noisy-le-grand)) Vol. 55 Issue 1 Pg. 15-8 (Feb 16 2009) ISSN: 1165-158X [Electronic] France
• PMID: 19267996 (Publication Type: Journal Article)

Chemical References

• Coproporphyrinogen Oxidase

Topics

• 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