| H01403 | |
| H number | H01403 |
| Name | Coffin-Siris syndrome |
| Description | Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | (CSS1) ARID1B [HSA:57492] [KO:K11653] (CSS2) ARID1A [HSA:8289] [KO:K11653] (CSS3) SMARCB1 [HSA:6598] [KO:K11648] (CSS4) SMARCA4 [HSA:6597] [KO:K11647] (CSS5) SMARCE1 [HSA:6605] [KO:K11651] (CSS6) ARID2 [HSA:196528] [KO:K11765] (CSS7) DPF2 [HSA:5977] [KO:K13196] (CSS8) SMARCC2 [HSA:6601] [KO:K11649] (CSS9) SOX11 [HSA:6664] [KO:K09268] (CSS10) SOX4 [HSA:6659] [KO:K23581] (CSS11) SMARCD1 [HSA:6602] [KO:K11650] (CSS12) BICRA [HSA:29998] [KO:K25612] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q87.1 MeSH: C536436 OMIM: 135900 614607 614608 614609 616938 617808 618027 618362 615866 618506 618779 619325 |
| Reference | PMID:23815551 AUTHORS Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N TITLE Coffin-Siris syndrome is a SWI/SNF complex disorder. JOURNAL Clin Genet 85:548-54 (2014) DOI:10.1111/cge.12225 PMID:22426308 (CSS1-CSS5) AUTHORS Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N TITLE Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. JOURNAL Nat Genet 44:376-8 (2012) DOI:10.1038/ng.2219 PMID:22426309 (CSS1) AUTHORS Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M TITLE Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. JOURNAL Nat Genet 44:379-80 (2012) DOI:10.1038/ng.2217 PMID:26238514 (CSS6) AUTHORS Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P, Juusola J, O'Donnell-Luria AH, Shen Y, Chung WK TITLE Mutations in ARID2 are associated with intellectual disabilities. JOURNAL Neurogenetics 16:307-14 (2015) DOI:10.1007/s10048-015-0454-0 PMID:29429572 (CSS7) AUTHORS Vasileiou G, Vergarajauregui S, Endele S, Popp B, Buttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmuller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Thiel CT, Ludecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A TITLE Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. JOURNAL Am J Hum Genet 102:468-479 (2018) DOI:10.1016/j.ajhg.2018.01.014 PMID:30580808 (CSS8) AUTHORS Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martinez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Campeau PM TITLE Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. JOURNAL Am J Hum Genet 104:164-178 (2019) DOI:10.1016/j.ajhg.2018.11.007 PMID:24886874 (CSS9) AUTHORS Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N TITLE De novo SOX11 mutations cause Coffin-Siris syndrome. JOURNAL Nat Commun 5:4011 (2014) DOI:10.1038/ncomms5011 PMID:30661772 (CSS10) AUTHORS Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V TITLE De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. JOURNAL Am J Hum Genet 104:246-259 (2019) DOI:10.1016/j.ajhg.2018.12.014 PMID:30879640 (CSS11) AUTHORS Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Heron D, Depienne C, Titheradge H, Kramer JM, Campeau PM TITLE A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. JOURNAL Am J Hum Genet 104:596-610 (2019) DOI:10.1016/j.ajhg.2019.02.001 PMID:33232675 (CSS12) AUTHORS Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ TITLE BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. JOURNAL Am J Hum Genet 107:1096-1112 (2020) DOI:10.1016/j.ajhg.2020.11.003 |