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Haploinsufficiency of NSD1 causes Sotos syndrome

Nature Genetics volume 30, pages 365–366 (2002)Cite this article

Abstract

We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.

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Figure 1: NSD1 mutations in individuals with Sotos syndrome.

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Acknowledgements

We thank the many clinicians for providing materials of affected individuals, S. Sugano for providing cDNA clones and J.C. Murray for critical reading of the manuscript.

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Authors and Affiliations

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

    Naohiro Kurotaki, Naoki Harada, Hiro-aki Tomita, Akira Kinoshita, Tsuyoshi Mizuguchi, Koh-ichiro Yoshiura, Norio Niikawa & Naomichi Matsumoto

  2. CREST, Japan Science and Technology Corporation, Kawaguchi, Japan

    Naohiro Kurotaki, Naoki Harada, Hirofumi Ohashi, Kenji Naritomi, Hiro-aki Tomita, Akira Kinoshita, Koh-ichiro Yoshiura, Tatsuya Kishino, Yoshimitsu Fukushima, Norio Niikawa & Naomichi Matsumoto

  3. Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

    Kiyoshi Imaizumi & Mitsuo Masuno

  4. Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan

    Naoki Harada

  5. Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan

    Tatsuro Kondoh

  6. Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, Japan

    Toshiro Nagai

  7. Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan

    Hirofumi Ohashi

  8. Department of Medical Genetics, University of the Ryukyu School of Medicine, Okinawa, Japan

    Kenji Naritomi

  9. Faculty of Health Science, Yamaguchi University School of Medicine, Ube, Japan

    Masato Tsukahara

  10. Department of Public Health, Asahikawa Medical College, Asahikawa, Japan

    Yoshio Makita

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

    Tateo Sugimoto

  12. Department of Pediatrics, Miyazaki Medical College, Miyazaki, Japan

    Tohru Sonoda

  13. Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Medical Center, Shizuoka, Japan

    Tomoko Hasegawa

  14. Department of Pediatrics, University of the Ryukyu School of Medicine, Okinawa, Japan

    Yasuaki Chinen

  15. Gene Research Center, Nagasaki University, Nagasaki, Japan

    Tohru Ohta & Tatsuya Kishino

  16. Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

    Yoshimitsu Fukushima

Authors
  1. Naohiro Kurotaki
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  2. Kiyoshi Imaizumi
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  12. Tohru Sonoda
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  14. Yasuaki Chinen
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  15. Hiro-aki Tomita
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  16. Akira Kinoshita
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  17. Tsuyoshi Mizuguchi
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  18. Koh-ichiro Yoshiura
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  19. Tohru Ohta
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  20. Tatsuya Kishino
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  21. Yoshimitsu Fukushima
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  22. Norio Niikawa
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  23. Naomichi Matsumoto
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Corresponding author

Correspondence to Naomichi Matsumoto.

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The authors declare no competing financial interests.

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Kurotaki, N., Imaizumi, K., Harada, N. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30, 365–366 (2002). https://doi.org/10.1038/ng863

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