| H01403 | |
| H番号 | H01403 |
| 名称 | コフィン・シリス症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0Y ICD-10: Q87.1 MeSH: C536436 OMIM: 135900 614607 614608 614609 616938 617808 618027 618362 615866 618506 618779 619325 |
| 文献 | PMID:23815551 著者 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 タイトル Coffin-Siris syndrome is a SWI/SNF complex disorder. 雑誌 Clin Genet 85:548-54 (2014) DOI:10.1111/cge.12225 PMID:22426308 (CSS1-CSS5) 著者 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 タイトル Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 雑誌 Nat Genet 44:376-8 (2012) DOI:10.1038/ng.2219 PMID:22426309 (CSS1) 著者 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 タイトル Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 雑誌 Nat Genet 44:379-80 (2012) DOI:10.1038/ng.2217 PMID:26238514 (CSS6) 著者 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 タイトル Mutations in ARID2 are associated with intellectual disabilities. 雑誌 Neurogenetics 16:307-14 (2015) DOI:10.1007/s10048-015-0454-0 PMID:29429572 (CSS7) 著者 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 タイトル Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 雑誌 Am J Hum Genet 102:468-479 (2018) DOI:10.1016/j.ajhg.2018.01.014 PMID:30580808 (CSS8) 著者 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 タイトル Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 雑誌 Am J Hum Genet 104:164-178 (2019) DOI:10.1016/j.ajhg.2018.11.007 PMID:24886874 (CSS9) 著者 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 タイトル De novo SOX11 mutations cause Coffin-Siris syndrome. 雑誌 Nat Commun 5:4011 (2014) DOI:10.1038/ncomms5011 PMID:30661772 (CSS10) 著者 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 タイトル De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 雑誌 Am J Hum Genet 104:246-259 (2019) DOI:10.1016/j.ajhg.2018.12.014 PMID:30879640 (CSS11) 著者 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 タイトル A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 雑誌 Am J Hum Genet 104:596-610 (2019) DOI:10.1016/j.ajhg.2019.02.001 PMID:33232675 (CSS12) 著者 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 タイトル BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. 雑誌 Am J Hum Genet 107:1096-1112 (2020) DOI:10.1016/j.ajhg.2020.11.003 |