Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, 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, Akira Kinoshita, Tsuyoshi Mizuguchi, Koh ichiro Yoshiura, Tohru Ohta, Tatsuya KishinoYoshimitsu Fukushima, Norio Niikawa, Naomichi Matsumoto

Research output: Contribution to journalArticle

394 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)365-366
Number of pages2
JournalNature Genetics
Volume30
Issue number4
DOIs
Publication statusPublished - 2002 Apr

ASJC Scopus subject areas

  • Genetics

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