title: A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.
abstract: Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). Only 11 mutations of the gene have been reported to date as the mutations responsible for HCP. We report here a novel mutation of the gene responsible for the disease in a Japanese family. Analysis of the polymerase chain reaction (PCR) amplified DNA fragments of the gene by direct-sequencing and/or cloning-based sequencing methods revealed the gene abnormality responsible for the disease. The mutation found was a single base deletion of T at nt position 526, which results in frame shift and truncation of coded protein at amino acid position 204. Screening of pre-symptomatic cases seemed to be possible by PCR restriction analysis using restriction enzyme Xcm I.
authors.affiliation: Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Susa
authors.forename: M
authors.initials: M
authors.lastname: Daimon
authors.forename: I
authors.initials: I
authors.lastname: Yamamori
authors.forename: M
authors.initials: M
authors.lastname: Kondo
authors.forename: K
authors.initials: K
authors.lastname: Yamatani
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Kato
mesh_terms: D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D003306:Coproporphyrins / Q000032:analysis; D005243:Feces / Q000737:chemistry; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017094:Porphyrias, Hepatic / Q000235:genetics*
chemical_list: D003306:Coproporphyrins; C026971:coproporphyrin III; D003304:Coproporphyrinogen Oxidase