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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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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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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

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Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Naomichi Matsumoto.

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DOI

https://doi.org/10.1038/ng863

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