Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain reaction-single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changes the codon for glutamine to a termination codon at amino acid position 29. MaeI restriction analysis showed two other carriers in the family. The C-T mutation is located within a recently proposed putative alternative translation initiation codon (TIC-1), supporting that TIC-1 is the real TIC rather than TIC-2.
Susa
S
S
The Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Daimon
M
M
Kondo
H
H
Kondo
M
M
Yamatani
K
K
Sasaki
H
H
D000328:Adult; D000818:Animals; D018387:Codon, Initiator; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D051379:Mice; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017094:Porphyrias, Hepatic / Q000201:enzymology* / Q000235:genetics
D018387:Codon, Initiator; D003304:Coproporphyrinogen Oxidase