A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.
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.
Susa
S
S
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Daimon
M
M
Yamamori
I
I
Kondo
M
M
Yamatani
K
K
Sasaki
H
H
Kato
T
T
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*
D003306:Coproporphyrins; C026971:coproporphyrin III; D003304:Coproporphyrinogen Oxidase