The ARID1B phenotype: What we have learned so far

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

Volumn 166, Issue 3, 2014, Pages 276-289

  Santen, Gijs W E ^a   Clayton Smith, Jill ^b   Adachi Fukuda, Miho ^b   AlKindy, Adila ^b   Baban, Anwar ^b   Berry, Katherine ^b   Canham, Natalie ^b   Collins, Amanda ^b   Chrzanowska, Krystyna ^b   Gardham, Alice ^b   Horn, Denise ^b   Kato, Mitsuhiro ^b   Kosho, Tomoki ^b   Krajewska Walasek, Malgorzata ^b   Kramer, Nancy ^b   Maas, Saskia ^b   Maystadt, Isabelle ^b   Mancini, Grazia ^b   McKee, Shane ^b   Milunski, Jeff ^b   Miyake, Noriko ^b   Mizuno, Seiji ^b   Ohashi, Hirofumi ^b   Okamoto, Nobuhiko ^b   Robertson, Stephen ^b   Soares, Gabriela ^b   Tanabe, Saori ^b   Vincent Delorme, Catherine ^b   de Vries, Bert ^b   Wieczorek, Dagmar ^b   Wilson, Louise ^b   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

ARID1B; Coffin siris syndrome; Review

Indexed keywords

ARID1B GENE; ARTICLE; AUTISM; BEHAVIOR DISORDER; CHILD DEVELOPMENT; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COFFIN SIRIS SYNDROME; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; EXOME; FEEDING DIFFICULTY; GASTROINTESTINAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HEARING DISORDER; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; LIMB MALFORMATION; MEDICAL LITERATURE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MYOPIA; PATHOGENICITY; PHENOTYPE; POINT MUTATION; SEIZURE; SKIN DISEASE; SPEECH DELAY; SPEECH DISORDER; THYROID CANCER; VISUAL DISORDER; ABNORMALITIES, MULTIPLE; CONGENITAL MALFORMATION; FACE; GENETIC ASSOCIATION; GENETICS; HAND DEFORMITIES, CONGENITAL; INTELLECTUAL DISABILITY; MICROGNATHISM; MUTATION; NECK;

ARID1B PROTEIN, HUMAN; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; FACE; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MICROGNATHISM; MUTATION; NECK; TRANSCRIPTION FACTORS;

EID: 84908611305     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31414     Document Type: Article

References (26)

1. Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van EH. 2011. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res 132:135-143.
2. Cajuso T, Hanninen UA, Kondelin J, Gylfe AE, Tanskanen T, Katainen R, Pitkanen E, Ristolainen H, Kaasinen E, Taipale M, Taipale J, Bohm J, Renkonen-Sinisalo L, Mecklin JP, Jarvinen H, Tuupanen S, Kilpivaara O, Vahteristo P. 2014. Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer. Int J Cancer 135:611-623.
3. Coffin GS, Siris E. 1970. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433-439.
4. Gilissen C, Hoischen A, Brunner HG, Veltman JA. 2011. Unlocking Mendelian disease using exome sequencing. Genome Biol 12:228.
5. Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson C, Henriksen K, Hjalgrim H, KirchhoffM, Bijlsma E, Nielsen M, den Hollander NS, Ruivenkamp C, Isidor B, Le CC, 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.
6. 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.
7. Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, Ranish J, Crabtree GR. 2013. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Nat Genet 45:592-601.
8. Khursheed M, Kolla JN, Kotapalli V, Gupta N, Gowrishankar S, Uppin SG, Sastry RA, Koganti S, Sundaram C, Pollack JR, BashyamMD. 2013. ARID1B, a member of the human SWI/SNF chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines. Br J Cancer 108:2056-2062.
9. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. 1999. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients. Genet Couns 10:11-24.
10. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. 2009. Interstitial deletion of 6q25.2-q25.3: A novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet 17:573-581.
11. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King MC, McClellan JM. 2011. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet 19:727-731.
12. Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. 1998. Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031-1033.
13. 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 HA, Kriek M. 2012a. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 44:379-380.
14. 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 der Wielen MJ, Vollebregt L, Breuning MH, Kriek M, van HA, 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.
15. Santen GW, Kriek M, van Attikum H. 2012b. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics 7:1219-1224.
16. Santen GW, Sun Y, Gijsbers AC, Carre A, Holvoet M, Haeringen A, Lesnik Oberstein SA, Tomoda A, Mabe H, Polak M, Devriendt K, Ruivenkamp CA, Bijlsma EK. 2012c. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) Involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. J Med Genet 49:366-372.
17. 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.
18. Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ. 2014. Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis 9:43.
19. Stephens PJ, Tarpey PS, Davies H, Van LP, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerod A, Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van d V, van ' V, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Borresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR. 2012. The landscape of cancer genes and mutational processes in breast cancer. Nature 486:400-404.
20. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS. 1999. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: Three cases studied using FISH. Am J Med Genet 87:17-22.
21. Sullivan KE. 2004. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol 4:505-512.
22. 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.
23. 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, Matsumoto N. 2014. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet 85:548-554.
24. Vals MA, Oiglane-Shlik E, Noukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Ounap K. 2014. Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. Eur J Hum Genet. doi: 10.1038/ejhg.2014.25
25. Vengoechea J, Carpenter L, Zarate YA. 2014. Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B. Am J Med Genet A 164:1857-1859.
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 DM, Mikat B, Morin G, Morice-Picard F, Ozkynay 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.