Numerous BAF complex genes are mutated in coffin-siris syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 3, 2014, Pages 257-261

  Miyake, Noriko ^a   Tsurusaki, Yoshinori ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

Coffin siris syndrome; Copy number analysis; Gene identification; Target resequencing; Whole exome sequencing

Indexed keywords

ARID1A GENE; ARID1B GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BAF COMPLEX GENE; BORJESON FORSSMAN LEHMANN SYNDROME; CHROMATIN ASSEMBLY AND DISASSEMBLY; COFFIN SIRIS SYNDROME; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MULTIPLE MALFORMATION SYNDROME; NICOLAIDES BARAITSER SYNDROME; NUCLEOTIDE SEQUENCE; PHF6 GENE; SMARCA2 GENE; SMARCA4 GENE; SMARCB1 GENE; SMARCE1 GENE; X CHROMOSOME LINKED DISORDER; COHORT ANALYSIS; CONGENITAL MALFORMATION; EPILEPSY; FACE; FACIES; FINGER; FOOT MALFORMATION; GENETIC ASSOCIATION; GENETICS; GROWTH DISORDER; HAND MALFORMATION; HYPOGONADISM; HYPOTRICHOSIS; INTELLECTUAL IMPAIRMENT; MICROGNATHIA; MUTATION; MUTATION RATE; NECK; OBESITY; X LINKED MENTAL RETARDATION;

ARID1A PROTEIN, HUMAN; ARID1B PROTEIN, HUMAN; CARRIER PROTEIN; DNA BINDING PROTEIN; DNA HELICASE; NONHISTONE PROTEIN; NUCLEAR PROTEIN; PHF6 PROTEIN, HUMAN; SMARCA2 PROTEIN, HUMAN; SMARCA4 PROTEIN, HUMAN; SMARCB1 PROTEIN, HUMAN; SMARCE1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; CARRIER PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; COHORT STUDIES; DNA HELICASES; DNA-BINDING PROTEINS; EPILEPSY; EXOME; FACE; FACIES; FINGERS; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPOGONADISM; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MENTAL RETARDATION, X-LINKED; MICROGNATHISM; MUTATION; MUTATION RATE; NECK; NUCLEAR PROTEINS; OBESITY; TRANSCRIPTION FACTORS;

EID: 84908686761     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31406     Document Type: Article

References (27)

1. Carey JC, Hall BD. 1978. The Coffin-Siris syndrome: Five new cases including two siblings. Am J Dis Child 132:667-671.
2. Coffin GS, Siris E. 1970. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433-439.
3. Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM. 2012. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet 91:597-607.
4. Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, KirchhoffM, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. 2012. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet 82:248-255.
5. Hargreaves DC, Crabtree GR. 2011. ATPdependent chromatin remodeling: Genetics, genomics and mechanisms. Cell Res 21:396-420.
6. Haspeslagh M, Fryns JP, van den Berghe H. 1984. The Coffin-Siris syndrome: Report of a family and further delineation. Clin Genet 26:374-378.
7. Helsmoortel C, Vulto-van Silfhout AT, Coe AT, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der AaN. 2014. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet 46:380-384.
8. Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Gohring I, Zink AM, Rappold G, Schrock E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. 2012. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90:565-572.
9. Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ, Nickerson DA, Shendure J. 2010. Targeted enrichment of specific regions in the human genome by array hybridization. Curr ProtocHumGenet Chapter 18:Unit 18 13.
10. Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N. 2013. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Am J Med Genet A 161A:1221-1237.
11. Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. 2012. Copy number variation detection and genotyping from exome sequence data. Genome Res 22: 1525-1532.
12. Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J. 2002. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet 32:661-665.
13. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 2010a. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793.
14. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, HuffCD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. 2010b. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30-35.
15. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-276.
16. Ronan JL, Wu W, Crabtree GR. 2013. From neural development to cognition: Unexpected roles for chromatin. Nat Rev Genet 14:347-359.
17. 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. 2012. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 44:379-380.
18. Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van derWielen MJ, Vollebregt MJ, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. 2013. Coffin-Siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Hum Mutat 34:1519-1528.
19. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'Avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, DeardorffMA. 2012. The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 158A: 1865-1876.
20. Shendure J, Ji H. 2008. Next-generation DNA sequencing. Nat Biotechnol 26:1135-1145.
21. Shendure J, Mitra RD, Varma C, Church GM. 2004. Advanced sequencing technologies: methods and goals. Nat Rev Genet 5:335-344.
22. Shendure JA, Porreca GJ, Church GM. 2008. Overview of DNA sequencing strategies. Curr Protoc Mol Biol Chapter 7:Unit 7 1.
23. 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. 2012. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44:376-378.
24. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal A, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N. 2013. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet.
25. Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, DeardorffMA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. 2012. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 44:445-449S441.
26. Wieczorek D, Bogershausen N, Beleggia F, Steiner-Haldenstatt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmuller J, Alanay Y, Kayserili H, Klein-Hitpass L, Bohringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillen-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PO, Lopez-Gonzalez V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nurnberg P, Rahmann S, Vermeesch J, Ludecke HJ, Zeschnigk M, Wollnik B. 2013. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121-5135.
27. Wilson BG, Roberts CW. 2011. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11:481-492.