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.
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Received: February 9, 1998 / Accepted March 24, 1998
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Susa, S., Daimon, M., Yamamori, I. et al. A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family. J Hum Genet 43, 182–184 (1998). https://doi.org/10.1007/s100380050065
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DOI: https://doi.org/10.1007/s100380050065