Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

被引：0

作者：

Yoshinori Tsurusaki

Nobuhiko Okamoto

Hirofumi Ohashi

Tomoki Kosho

Yoko Imai

Yumiko Hibi-Ko

Tadashi Kaname

Kenji Naritomi

Hiroshi Kawame

Keiko Wakui

Yoshimitsu Fukushima

Tomomi Homma

Mitsuhiro Kato

Yoko Hiraki

Takanori Yamagata

Shoji Yano

Seiji Mizuno

Satoru Sakazume

Takuma Ishii

Toshiro Nagai

Masaaki Shiina

Kazuhiro Ogata

Tohru Ohta

Norio Niikawa

Satoko Miyatake

Ippei Okada

Takeshi Mizuguchi

Hiroshi Doi

Hirotomo Saitsu

Noriko Miyake

Naomichi Matsumoto

机构：

[1] Yokohama City University Graduate School of Medicine,Department of Human Genetics

[2] Osaka Medical Center and Research Institute for Maternal and Child Health,Division of Medical Genetics

[3] Saitama Children's Medical Center,Division of Medical Genetics

[4] Shinshu University School of Medicine,Department of Medical Genetics

[5] Japanese Red Cross Medical Center,Division of Pediatrics

[6] University of the Ryukyus Faculty of Medicine,Department of Medical Genetics

[7] Graduate School of Humanities and Sciences,Department of Genetic Counseling

[8] Ochanomizu University,Division of Medical Genetics

[9] Nagano Children's Hospital,Division of Pediatrics

[10] Yamagata Prefectural and Sakata Municipal Hospital Organization,Department of Pediatrics

[11] Nihonkai General Hospital,Department of Pediatrics

[12] Yamagata University Faculty of Medicine,Genetics Division, Department of Pediatrics

[13] Hiroshima Municipal Center for Child Health and Development,Department of Pediatrics

[14] Jichi Medical University,Department of Pediatrics

[15] Los Angeles County and University of Southern California Medical Center,Department of Biochemistry

[16] Keck School of Medicine,undefined

[17] University of Southern California,undefined

[18] Central Hospital,undefined

[19] Aichi Human Service Center,undefined

[20] Koshigaya Hospital,undefined

[21] Dokkyo University School of Medicine,undefined

[22] Nakagawa-No-Sato,undefined

[23] Hospital for the Disabled,undefined

[24] Yokohama City University Graduate School of Medicine,undefined

[25] Research Institute of Personalized Health Sciences,undefined

[26] Health Sciences University of Hokkaido,undefined

来源：

Nature Genetics | 2012年 / 44卷

关键词：

D O I：

暂无

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学科分类号：

摘要：

Naomichi Matsumoto and colleagues report mutations in the SWI/SNF chromatin remodeling complex in Coffin-Siris syndrome. Twenty affected individuals (87%) harbored mutations in one of six SWI/SNF subunit genes: SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A or ARID1B.

引用

页码：376 / 378

页数：2

共 50 条

[1] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Tsurusaki, Yoshinori
Okamoto, Nobuhiko
Ohashi, Hirofumi
Kosho, Tomoki
Imai, Yoko
Hibi-Ko, Yumiko
Kaname, Tadashi
Naritomi, Kenji
Kawame, Hiroshi
Wakui, Keiko
Fukushima, Yoshimitsu
Homma, Tomomi
Kato, Mitsuhiro
Hiraki, Yoko
Yamagata, Takanori
Yano, Shoji
Mizuno, Seiji
Sakazume, Satoru
Ishii, Takuma
Nagai, Toshiro
Shiina, Masaaki
Ogata, Kazuhiro
Ohta, Tohru
Niikawa, Norio
Miyatake, Satoko
Okada, Ippei
Mizuguchi, Takeshi
Doi, Hiroshi
Saitsu, Hirotomo
Miyake, Noriko
Matsumoto, Naomichi
[J]. NATURE GENETICS, 2012, 44 (04) : 376 - 378
[2] Coffin-Siris syndrome is a SWI/SNF complex disorder
Tsurusaki, Y.
Okamoto, N.
Ohashi, H.
Mizuno, S.
Matsumoto, N.
Makita, Y.
Fukuda, M.
Isidor, B.
Perrier, J.
Aggarwal, S.
Dalal, A. B.
Al-Kindy, A.
Liebelt, J.
Mowat, D.
Nakashima, M.
Saitsu, H.
Miyake, N.
Matsumoto, N.
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[3] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W. E.
Aten, Emmelien
Sun, Yu
Almomani, Rowida
Gilissen, Christian
Nielsen, Maartje
Kant, Sarina G.
Snoeck, Irina N.
Peeters, Els A. J.
Hilhorst-Hofstee, Yvonne
Wessels, Marja W.
den Hollander, Nicolette S.
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Breuning, Martijn H.
den Dunnen, Johan T.
van Haeringen, Arie
Kriek, Marjolein
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[4] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
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[J]. Nature Genetics, 2012, 44 : 379 - 380
[5] REPORT OF ANOTHER CHILD WITH COFFIN-SIRIS SYNDROME AND NEUROBLASTOMA: DO MUTATIONS IN THE SWI/SNF CHROMATIN REMODELLING COMPLEX THAT CAUSE INTELLECTUAL DISABILITY ALSO PREDISPOSE TO EMBRYONAL TUMOURS?
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[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (08) : 1729 - 1730
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