Human Genetics

, Volume 87, Issue 1, pp 28–32 | Cite as

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

  • Akira Hata
  • Toshinobu Matsuura
  • Chiaki Setoyama
  • Kazuniro Shimada
  • Tohru Yokoi
  • Izumi Akaboshi
  • Ichiro Matsuda
Original Investigations

Summary

We studied two unrelated male probands with mild ornithine transcarbamylase (OTC) (E.G.2.1.3.3) deficiency presenting a similar clinical course. Previous analyses of their liver OTCs also revealed similar properties. To identify the underlying molecular defects, we first cloned the entire coding region of the OTC gene from one proband and found a single base-substitution (C to T) leading to the substitution of tryptophan for arginine at amino acid position 277. Using a genomic amplification technique followed by allele specific oligonucleotide hybridization, we identified the same point mutation in the OTC gene of the other proband. We observed the presence of the mutation among family members in at least three generations, and in one asymptomatic hemizygous sibling in each family.

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Akira Hata
    • 1
    • 2
  • Toshinobu Matsuura
    • 1
    • 2
  • Chiaki Setoyama
    • 1
  • Kazuniro Shimada
    • 1
  • Tohru Yokoi
    • 3
  • Izumi Akaboshi
    • 2
  • Ichiro Matsuda
    • 2
  1. 1.Department of BiochemistryKumamoto University Medical SchoolKumamotoJapan
  2. 2.Department of PediatricsKumamoto University Medical SchoolKumamotoJapan
  3. 3.Department of PediatricsKanazawa University Medical SchoolIshikawaJapan

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