A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

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  • Yamaguchi Rie
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
  • Kato Fumiko
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
  • Hasegawa Tomonobu
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan
  • Katsumata Noriyuki
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan
  • Fukami Maki
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan
  • Matsui Toshiharu
    Department of Pediatrics, Nagaoka Chuo General Hospital, Nagaoka 940-8653, Japan
  • Nagasaki Keisuke
    Division of Pediatrics, Niigata University Graduate School of Medicine and Dental Sciences, Niigata 951-8122, Japan
  • Ogata Tsutomu
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

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抄録

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by primary hypocortisolism and normal mineralocorticoid production. Recently, NNT encoding the nicotinamide nucleotide transhydrogenase has been identified as a causative gene for FGD. Thus, we examined NNT in six Japanese FGD patients with no recognizable mutation in the previously known four responsible genes for FGD (MC2R, MRAP, STAR, and MCM4), and identified a novel homozygous substitution (c.644T>C; p.Phe215Ser) in a single 17.5-year-old boy. His parents were heterozygous for this mutation. This substitution was absent from 120 Japanese control subjects and was not registered in public databases including JSNP Database. The phenylalanine residue at the 215th codon was evolutionally conserved, and the p.Phe215Ser was assessed to be a pathologic mutation by in silico protein function analyses. The results, in conjunction with the previous data, imply that NNT mutations account for 5-10% of FGD patients, and that underlying factor(s) still remains to be clarified in a substantial fraction of FGD patients.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 60 (7), 855-859, 2013

    一般社団法人 日本内分泌学会

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