Human Genetics

, Volume 99, Issue 2, pp 199–201 | Cite as

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria

  • M. Daimon
  • Eishirou Gojyou
  • Makoto Sugawara
  • Keiichi Yamatani
  • Makoto Tominaga
  • Hideo Sasaki
Original investigation

Abstract

Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-amplified DNA fragments of the gene by a direct-sequencing method. A point mutation, G to A, was found in exon 4 of the gene at position 538 of the cDNA from the reported putative translation initiation codon ATG. This mutation results in a glycine to arginine substitution at amino acid 180. Two carriers in the family were successfully diagnosed by detecting the mutation using restriction analysis of the PCR products.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • M. Daimon
    • 1
  • Eishirou Gojyou
    • 2
  • Makoto Sugawara
    • 3
  • Keiichi Yamatani
    • 1
  • Makoto Tominaga
    • 1
  • Hideo Sasaki
    • 1
  1. 1.The Third Department of Internal Medicine, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990–23, Japan Tel.: +81-236-28-5316; Fax: +81-236-28-5318JP
  2. 2.Gojyou Clinic, 7-4-17 Ushijima-Higashi, Akita, JapanJP
  3. 3.Sugawara Clinic, 6–60 Higashidouri-Kannonnmae, Akita, JapanJP

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