Haploinsufficiency of NSD1 causes Sotos syndrome

被引：454

作者：

Kurotaki, N

Imaizumi, K

Harada, N

Masuno, M

Kondoh, T

Nagai, T

Ohashi, H

Naritomi, K

Tsukahara, M

Makita, Y

Sugimoto, T

Sonoda, T

Hasegawa, T

Chinen, Y

Tomita, H

Kinoshita, A

Mizuguchi, T

Yoshiura, K

Ohta, T

Kishino, T

Fukushima, Y

Niikawa, N

Matsumoto, N ^{[1
]}

机构：

[1] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 852, Japan

[2] Japan Sci & Technol Corp, CREST, Kawaguchi, Japan

[3] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[4] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan

[5] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 852, Japan

[6] Dokkyo Univ, Sch Med, Koshigaya Hosp, Dept Pediat, Koshigaya, Japan

[7] Saitama Childrens Med Ctr, Div Med Genet, Kawagoe, Saitama, Japan

[8] Univ Ryukyus, Sch Med, Dept Med Genet, Okinawa, Japan

[9] Yamaguchi Univ, Sch Med, Fac Hlth Sci, Ube, Yamaguchi 755, Japan

[10] Asahikawa Med Coll, Dept Publ Hlth, Asahikawa, Hokkaido 078, Japan

[11] Kansai Med Univ, Otokoyama Hosp, Dept Pediat, Yawata, Japan

[12] Miyazaki Med Coll, Dept Pediat, Miyazaki 88916, Japan

[13] Shizuoka Childrens Med Ctr, Div Clin Genet & Cytogenet, Shizuoka, Japan

[14] Univ Ryukyus, Sch Med, Dept Pediat, Okinawa, Japan

[15] Nagasaki Univ, Ctr Gene Res, Nagasaki 852, Japan

[16] Shinshu Univ, Sch Med, Dept Hyg & Med Genet, Matsumoto, Nagano 390, Japan

来源：

NATURE GENETICS | 2002年 / 30卷 / 04期

关键词：

D O I：

10.1038/ng863

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：365 / 366

页数：2

共 11 条

[1] THE PHD FINGER - IMPLICATIONS FOR CHROMATIN-MEDIATED TRANSCRIPTIONAL REGULATION [J].