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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

Nature Genetics volume 1, pages 56–58 (1992)Cite this article

Abstract

Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.

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Authors and Affiliations

  1. Department of Laboratory Medicine, Osaka University Medical School, Osaka, 565, Japan

    Ke-ita Tatsumi, Kiyoshi Miyai, Tsugunori Notomi, Kyoko Kaibe & Nobuyuki Amino

  2. Fukuoka-higashi National Hospital, Fukuoka, Japan

    Yuji Mizuno

  3. Fukuoka Children's Hospital, Fukuoka, Japan

    Hitoshi Kohno

Authors
  1. Ke-ita Tatsumi
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  2. Kiyoshi Miyai
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  3. Tsugunori Notomi
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  4. Kyoko Kaibe
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  5. Nobuyuki Amino
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  6. Yuji Mizuno
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  7. Hitoshi Kohno
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Tatsumi, Ki., Miyai, K., Notomi, T. et al. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet 1, 56–58 (1992). https://doi.org/10.1038/ng0492-56

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