Mutations Affecting Components of the SWI/SNF Complex Cause Coffin-Siris Syndrome

Overview

Journal Nat Genet

Specialty Genetics

Date 2012 Mar 20

PMID 22426308

Citations 258

Authors

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

Affiliations

Soon will be listed here.

Abstract

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.

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References

Wittwer C, Reed G, Gundry C, Vandersteen J, Pryor R . High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem. 2003; 49(6 Pt 1):853-60. DOI: 10.1373/49.6.853. View

Hadfield K, Newman W, Bowers N, Wallace A, Bolger C, Colley A . Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008; 45(6):332-9. DOI: 10.1136/jmg.2007.056499. View

Wilson B, Roberts C . SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 2011; 11(7):481-92. DOI: 10.1038/nrc3068. View

Bamshad M, Ng S, Bigham A, Tabor H, Emond M, Nickerson D . Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011; 12(11):745-55. DOI: 10.1038/nrg3031. View

Bultman S, Gebuhr T, Yee D, La Mantia C, Nicholson J, Gilliam A . A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes. Mol Cell. 2001; 6(6):1287-95. DOI: 10.1016/s1097-2765(00)00127-1. View

COFFIN G, Siris E . Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970; 119(5):433-9. DOI: 10.1001/archpedi.1970.02100050435009. View

Taylor M, Gokgoz N, Andrulis I, Mainprize T, Drake J, Rutka J . Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet. 2000; 66(4):1403-6. PMC: 1288204. DOI: 10.1086/302833. View

Schneppenheim R, Fruhwald M, Gesk S, Hasselblatt M, Jeibmann A, Kordes U . Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010; 86(2):279-84. PMC: 2820190. DOI: 10.1016/j.ajhg.2010.01.013. View

Xue Y, Canman J, Lee C, Nie Z, Yang D, Moreno G . The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes. Proc Natl Acad Sci U S A. 2000; 97(24):13015-20. PMC: 27170. DOI: 10.1073/pnas.240208597. View

10.

Hargreaves D, Crabtree G . ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res. 2011; 21(3):396-420. PMC: 3110148. DOI: 10.1038/cr.2011.32. View

11.

Clapier C, Cairns B . The biology of chromatin remodeling complexes. Annu Rev Biochem. 2009; 78:273-304. DOI: 10.1146/annurev.biochem.77.062706.153223. View

12.

Boyd C, Smith M, Kluwe L, Balogh A, Maccollin M, Plotkin S . Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008; 74(4):358-66. DOI: 10.1111/j.1399-0004.2008.01060.x. View

13.

Reisman D, Glaros S, Thompson E . The SWI/SNF complex and cancer. Oncogene. 2009; 28(14):1653-68. DOI: 10.1038/onc.2009.4. View

14.

Reyes J, Barra J, Muchardt C, Camus A, Babinet C, Yaniv M . Altered control of cellular proliferation in the absence of mammalian brahma (SNF2alpha). EMBO J. 1998; 17(23):6979-91. PMC: 1171046. DOI: 10.1093/emboj/17.23.6979. View