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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

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Abstract

Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones1. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1–q13.3 (ref. 2), which two other groups confirmed3,4. As the human transforming growth factor-β1 gene (TGFB1) is located within this interval5, we considered it a candidate gene for CED.

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Figure 1: Three mutations in patients with CED.

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Acknowledgements

We thank our patients for their participation. This study was supported by Grants-in-Aid (11470507 for N.N.; 11672252 for K.Y.; 10770489 for H.T.) from Ministry of Education, Science, Sports and Culture, and from Ministry of Health and Welfare of Japan.

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Author notes

  1. Akira Kinoshita and Koh-ichiro Yoshiura: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan

    Akira Kinoshita, Hiro-aki Tomita, Mohsen Ghadami, Koki Yamada, Shinji Kondo, Norio Niikawa & Koh-ichiro Yoshiura

  2. Department of Biochemistry, Osaka University Faculty of Medicine, Suitashi, Osaka, Japan

    Takashi Saito & Naoyuki Taniguchi

  3. Department of Pediatrics, Asahikawa Medical College, Asahikawa, Hokkaido, Japan

    Yoshio Makita

  4. Department of Public Health, Asahikawa Medical College, Asahikawa, Hokkaido, Japan

    Yoshio Makita

  5. Third Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

    Kunihiro Yoshida

  6. Department of Medical Genetics and Division of Clinical and Molecular Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

    Yoshimitsu Fukushima

  7. Human Genome Center, Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo, Japan

    Shiro Ikegawa

  8. Department of Radiology, Dokkyo University School of Medicine, Shimotsuga-gun, Tochigi, Japan

    Gen Nishimura

  9. Asahigawa-Ryoikuen Children's Hospital for Physically Disabled, Okayama, Japan

    Tadashi Nakagomi

  10. Department of Orthopedic Surgery, Akita University School of Medicine, Akita, Japan

    Haruki Saito

  11. Department of Pediatrics, Kansai University Otokoyama Hospital, Yawata, Kyoto, Japan

    Takeo Sugimoto

  12. Division of Orthopedic Surgery, Chiba Children's Hospital, Chiba, Japan

    Makoto Kamegaya

  13. Department of Orthopedic Surgery, National Chushin Matsumoto Hospital, Matsumoto, Nagano, Japan

    Kenji Hisa

  14. Department of Pediatrics and Biological Science, University of Iowa, Iowa City, Iowa, USA

    Jeffrey C. Murray

Authors
  1. Akira Kinoshita
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  2. Takashi Saito
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  3. Hiro-aki Tomita
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  4. Yoshio Makita
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  5. Kunihiro Yoshida
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  6. Mohsen Ghadami
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  7. Koki Yamada
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  8. Shinji Kondo
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  9. Shiro Ikegawa
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  10. Gen Nishimura
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  11. Yoshimitsu Fukushima
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  12. Tadashi Nakagomi
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  13. Haruki Saito
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  14. Takeo Sugimoto
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  15. Makoto Kamegaya
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  16. Kenji Hisa
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  17. Jeffrey C. Murray
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  18. Naoyuki Taniguchi
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  19. Norio Niikawa
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  20. Koh-ichiro Yoshiura
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Corresponding authors

Correspondence to Akira Kinoshita or Koh-ichiro Yoshiura.

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Kinoshita, A., Saito, T., Tomita, Ha. et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 26, 19–20 (2000). https://doi.org/10.1038/79128

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