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Brief Communication
Nature Genetics  30, 365 - 366 (2002)
Published online: 18 March 2002; | doi:10.1038/ng863

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki1, 2, Kiyoshi Imaizumi3, Naoki Harada1, 2, 4, Mitsuo Masuno3, Tatsuro Kondoh5, Toshiro Nagai6, Hirofumi Ohashi2, 7, Kenji Naritomi2, 8, Masato Tsukahara9, Yoshio Makita10, Tateo Sugimoto11, Tohru Sonoda12, Tomoko Hasegawa13, Yasuaki Chinen14, Hiro-aki Tomita1, 2, Akira Kinoshita1, 2, Tsuyoshi Mizuguchi1, Koh-ichiro Yoshiura1, 2, Tohru Ohta15, Tatsuya Kishino2, 15, Yoshimitsu Fukushima2, 16, Norio Niikawa1, 2 & Naomichi Matsumoto1, 2

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

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

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

4  Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.

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

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

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

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

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

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

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

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

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

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

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

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

Correspondence should be addressed to Naomichi Matsumoto naomat@net.nagasaki-u.ac.jp
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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RESEARCH
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
European Journal of Human Genetics Article (01 Nov 2003)

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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