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. 2002 Apr;30(4):365-6.
doi: 10.1038/ng863. Epub 2002 Mar 18.

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki  1 , Kiyoshi Imaizumi, Naoki Harada, Mitsuo Masuno, Tatsuro Kondoh, Toshiro Nagai, Hirofumi Ohashi, Kenji Naritomi, Masato Tsukahara, Yoshio Makita, Tateo Sugimoto, Tohru Sonoda, Tomoko Hasegawa, Yasuaki Chinen, Hiro-aki Tomita Ha, Akira Kinoshita, Tsuyoshi Mizuguchi, Koh-ichiro Yoshiura Ki, Tohru Ohta, Tatsuya Kishino, Yoshimitsu Fukushima, Norio Niikawa, Naomichi Matsumoto
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Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki et al. Nat Genet. 2002 Apr.

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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