Literature DB >> 11896389

Haploinsufficiency of NSD1 causes Sotos syndrome.

Naohiro Kurotaki1, 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.   

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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Year:  2002        PMID： 11896389     DOI： 10.1038/ng863

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  170 in total

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