van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin ORCID: 0000-0003-0683-9731, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco ORCID: 0000-0002-0589-2584, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane ORCID: 0000-0002-1772-0106, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen ORCID: 0000-0003-4271-5859, Pasquier, Laurent ORCID: 0000-0003-3985-1286, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline ORCID: 0000-0002-9789-3591, Ropers, Fabienne G., Rosello, Monica ORCID: 0000-0001-9234-2953, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill and Santen, Gijs W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet. Med., 21 (6). S. 1295 - 1308. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

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Abstract

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive webbased survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
van der Sluijs, Pleuntje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jansen, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vergano, Samantha A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adachi-Fukuda, MihoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alanay, YaseminUNSPECIFIEDorcid.org/0000-0003-0683-9731UNSPECIFIED
AlKindy, AdilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baban, AnwarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bayat, AllanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck-Woedl, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berry, KatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bijlsma, Emilia K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bok, Levinus A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brouwer, Alwin F. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Burgt, InekeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campeau, Philippe M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Canham, NatalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chrzanowska, KrystynaUNSPECIFIEDorcid.org/0000-0003-3888-0624UNSPECIFIED
Chu, Yoyo W. Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chung, Brain H. Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dahan, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Rademaeker, MarjanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Destree, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dudding-Byth, TracyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Earl, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Elcioglu, NurselUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Elias, Ellen R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fagerberg, ChristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gardham, AliceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gener, BlancaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerkes, Erica H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grasshoff, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Haeringen, ArieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heitink, Karin R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herkert, Johanna C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
den Hollander, Nicolette S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horn, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunt, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kant, Sarina G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kato, MitsuhiroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayserili, HulyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kersseboom, RogierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kilic, EsraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krajewska-Walasek, MalgorzataUNSPECIFIEDorcid.org/0000-0001-8721-210XUNSPECIFIED
Lammers, KylinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laulund, Lone W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lederer, DamienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lees, MelissaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Gonzalez, VanesaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maas, SaskiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mancini, Grazia M. S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marcelis, CarloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martinez, FranciscoUNSPECIFIEDorcid.org/0000-0002-0589-2584UNSPECIFIED
Maystadt, IsabelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McGuire, MarianneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McKee, ShaneUNSPECIFIEDorcid.org/0000-0002-1772-0106UNSPECIFIED
Mehta, SarjuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Metcalfe, KayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milunsky, JeffUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mizuno, SeijiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moeschler, John B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Netzer, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ockeloen, Charlotte W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oehl-Jaschkowitz, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Okamoto, NobuhikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olminkhof, Sharon N. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orellana, CarmenUNSPECIFIEDorcid.org/0000-0003-4271-5859UNSPECIFIED
Pasquier, LaurentUNSPECIFIEDorcid.org/0000-0003-3985-1286UNSPECIFIED
Pottinger, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riehmer, VeraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robertson, Stephen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roifman, MaianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rooryck, CarolineUNSPECIFIEDorcid.org/0000-0002-9789-3591UNSPECIFIED
Ropers, Fabienne G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosello, MonicaUNSPECIFIEDorcid.org/0000-0001-9234-2953UNSPECIFIED
Ruivenkamp, Claudia A. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sagiroglu, Mahmut S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sallevelt, Suzanne C. E. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchis Calvo, AmparoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simsek-Kiper, Pelin O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soares, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Solaeche, LuciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sonmez, Fatma MujganUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Splitt, MirandaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steenbeek, DucoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stegmann, Alexander P. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stumpel, Constance T. R. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tanabe, SaoriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uctepe, EyyupUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Utine, G. EdaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Veenstra-Knol, Hermine E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Venkateswaran, SunitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vilain, CathelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vincent-Delorme, CatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vulto-van Silfhout, Anneke T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wheeler, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wilson, Golder N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wilson, Louise C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosho, TomokiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieczorek, DagmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eichler, EvanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pfundt, RolphUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Vries, Bert B. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clayton-Smith, JillUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santen, Gijs W. E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-146787
DOI: 10.1038/s41436-018-0330-z
Journal or Publication Title: Genet. Med.
Volume: 21
Number: 6
Page Range: S. 1295 - 1308
Date: 2019
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1530-0366
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CHROMATIN-REMODELING COMPLEX; MUTATIONS; PHENOTYPEMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14678

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