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Comment
. 2019 Nov;21(11):2656-2657.
doi: 10.1038/s41436-019-0547-5. Epub 2019 May 20.

Response to Gorokhova et al

Eline P J van der Sluijs  1 , Claudia A L Ruivenkamp  1 , Gijs W E Santen  2
Affiliations
Free article
Comment

Response to Gorokhova et al

Eline P J van der Sluijs et al. Genet Med. 2019 Nov.
Free article
No abstract available

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Comment on

  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
    van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
  • Significant contribution of intragenic deletions to ARID1B mutation spectrum.
    Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C. Gorokhova S, et al. Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. Epub 2019 May 20. Genet Med. 2019. PMID: 31105273 No abstract available.

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References

    1. van der Sluijs PJ, Jansen S, Vergano SA, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome. Genet Med. 2018. https://doi.org/10.1038/s41436-018-0330-z [Epub ahead of print].
    1. Gorokhova S, Mortreux J, Afenjar A, et al. Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genet Med. 2019. https://doi.org/10.1038/s41436-019-0546-6 .
    1. Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34:1519–1528. - DOI
    1. Santen GW, Clayton-Smith J. The ARID1B phenotype: what we have learned so far. Am J Med Genet C Semin Med Genet. 2014;166C:276–289. - DOI
    1. Santen GW, Aten E, Sun Y, et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012;44:379–380. - DOI

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