KEGG   DISEASE: Coffin-Siris syndrome
Entry
H01403                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01403  Coffin-Siris syndrome
Pathway
hsa03082  ATP-dependent chromatin remodeling
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]
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
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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