Original Article | Published:

A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family

Journal of Human Genetics volume 43, pages 182184 (1998) | Download Citation


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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  1. Third Department of Internal Medicine, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585 Japan

    • Shinji Susa
    • , Makoto Daimon
    • , Keiichi Yamatani
    • , Hideo Sasaki
    •  & Takeo Kato
  2. Division of Internal Medicine, Japan Red Cross Nagoya First Hospital, Nagoya, Japan

    • Ikuo Yamamori
  3. Division of Nutrition and Biochemistry, Institute of Public Health, Tokyo, Japan

    • Masao Kondo


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Correspondence to Makoto Daimon.

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