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Haploinsufficiency of NSD1 causes Sotos syndrome |
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| Authors: | Kurotaki Naohiro Imaizumi Kiyoshi Harada Naoki Masuno Mitsuo Kondoh Tatsuro Nagai Toshiro Ohashi Hirofumi Naritomi Kenji Tsukahara Masato Makita Yoshio Sugimoto Tateo Sonoda Tohru Hasegawa Tomoko Chinen Yasuaki Tomita Ha Hiro-aki Kinoshita Akira Mizuguchi Tsuyoshi Yoshiura Ki Koh-ichiro Ohta Tohru Kishino Tatsuya Fukushima Yoshimitsu Niikawa Norio Matsumoto Naomichi |
| Institution: | Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan. |
| 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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