Four novel mutations of the coproporphyrinogen III oxidase gene.
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).
Aurizi
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C
Porphyria and Hereditary Metabolic Diseases Center San Gallicano Institute, I.F.O., IRCCS Rome Italy. aurizi@commat.ifo.it
Lupia Palmieri
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G
Barbieri
L
L
Macrì
A
A
Sorge
F
F
Usai
G
G
Biolcati
G
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D046349:Coproporphyria, Hereditary / Q000235:genetics*; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D055815:Young Adult
D003304:Coproporphyrinogen Oxidase