The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

dc.contributor.authorvan der Sluijs, Pleuntje J.
dc.contributor.authorJansen, Sandra
dc.contributor.authorVergano, Samantha A.
dc.contributor.authorAdachi-Fukuda, Miho
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorAlKindy, Adila
dc.contributor.authorBaban, Anwar
dc.contributor.authorBayat, Allan
dc.contributor.authorBeck-Woedl, Stefanie
dc.contributor.authorBerry, Katherine
dc.contributor.authorBijlsma, Emilia K.
dc.contributor.authorBok, Levinus A.
dc.contributor.authorBrouwer, Alwin F. J.
dc.contributor.authorvan der Burgt, Ineke
dc.contributor.authorCampeau, Philippe M.
dc.contributor.authorCanham, Natalie
dc.contributor.authorChrzanowska, Krystyna
dc.contributor.authorChu, Yoyo W. Y.
dc.contributor.authorChung, Brain H. Y.
dc.contributor.authorDahan, Karin
dc.contributor.authorDe Rademaeker, Marjan
dc.contributor.authorDestree, Anne
dc.contributor.authorDudding-Byth, Tracy
dc.contributor.authorEarl, Rachel
dc.contributor.authorElcioglu, Nursel
dc.contributor.authorElias, Ellen R.
dc.contributor.authorFagerberg, Christina
dc.contributor.authorGardham, Alice
dc.contributor.authorGener, Blanca
dc.contributor.authorGerkes, Erica H.
dc.contributor.authorGrasshoff, Ute
dc.contributor.authorvan Haeringen, Arie
dc.contributor.authorHeitink, Karin R.
dc.contributor.authorHerkert, Johanna C.
dc.contributor.authorden Hollander, Nicolette S.
dc.contributor.authorHorn, Denise
dc.contributor.authorHunt, David
dc.contributor.authorKant, Sarina G.
dc.contributor.authorKato, Mitsuhiro
dc.contributor.authorKayserili, Hulya
dc.contributor.authorKersseboom, Rogier
dc.contributor.authorKilic, Esra
dc.contributor.authorKrajewska-Walasek, Malgorzata
dc.contributor.authorLammers, Kylin
dc.contributor.authorLaulund, Lone W.
dc.contributor.authorLederer, Damien
dc.contributor.authorLees, Melissa
dc.contributor.authorLopez-Gonzalez, Vanesa
dc.contributor.authorMaas, Saskia
dc.contributor.authorMancini, Grazia M. S.
dc.contributor.authorMarcelis, Carlo
dc.contributor.authorMartinez, Francisco
dc.contributor.authorMaystadt, Isabelle
dc.contributor.authorMcGuire, Marianne
dc.contributor.authorMcKee, Shane
dc.contributor.authorMehta, Sarju
dc.contributor.authorMetcalfe, Kay
dc.contributor.authorMilunsky, Jeff
dc.contributor.authorMizuno, Seiji
dc.contributor.authorMoeschler, John B.
dc.contributor.authorNetzer, Christian
dc.contributor.authorOckeloen, Charlotte W.
dc.contributor.authorOehl-Jaschkowitz, Barbara
dc.contributor.authorOkamoto, Nobuhiko
dc.contributor.authorOlminkhof, Sharon N. M.
dc.contributor.authorOrellana, Carmen
dc.contributor.authorPasquier, Laurent
dc.contributor.authorPottinger, Caroline
dc.contributor.authorRiehmer, Vera
dc.contributor.authorRobertson, Stephen P.
dc.contributor.authorRoifman, Maian
dc.contributor.authorRooryck, Caroline
dc.contributor.authorRopers, Fabienne G.
dc.contributor.authorRosello, Monica
dc.contributor.authorRuivenkamp, Claudia A. L.
dc.contributor.authorSagiroglu, Mahmut S.
dc.contributor.authorSallevelt, Suzanne C. E. H.
dc.contributor.authorSanchis Calvo, Amparo
dc.contributor.authorSimsek-Kiper, Pelin O.
dc.contributor.authorSoares, Gabriela
dc.contributor.authorSolaeche, Lucia
dc.contributor.authorSonmez, Fatma Mujgan
dc.contributor.authorSplitt, Miranda
dc.contributor.authorSteenbeek, Duco
dc.contributor.authorStegmann, Alexander P. A.
dc.contributor.authorStumpel, Constance T. R. M.
dc.contributor.authorTanabe, Saori
dc.contributor.authorUctepe, Eyyup
dc.contributor.authorUtine, G. Eda
dc.contributor.authorVeenstra-Knol, Hermine E.
dc.contributor.authorVenkateswaran, Sunita
dc.contributor.authorVilain, Catheline
dc.contributor.authorVincent-Delorme, Catherine
dc.contributor.authorVulto-van Silfhout, Anneke T.
dc.contributor.authorWheeler, Patricia
dc.contributor.authorWilson, Golder N.
dc.contributor.authorWilson, Louise C.
dc.contributor.authorWollnik, Bernd
dc.contributor.authorKosho, Tomoki
dc.contributor.authorWieczorek, Dagmar
dc.contributor.authorEichler, Evan
dc.contributor.authorPfundt, Rolph
dc.contributor.authorde Vries, Bert B. A.
dc.contributor.authorClayton-Smith, Jill
dc.contributor.authorSanten, Gijs W. E.
dc.date.accessioned2023-02-21T12:43:10Z
dc.date.available2023-02-21T12:43:10Z
dc.date.issued2019-01-01
dc.description.abstractPurpose: 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.
dc.description.issue6
dc.description.issueJUN
dc.description.pages1295-1307
dc.description.volume21
dc.identifier.doi10.1038/s41436-018-0330-z
dc.identifier.urihttps://hdl.handle.net/11443/2883
dc.identifier.urihttp://dx.doi.org/10.1038/s41436-018-0330-z
dc.identifier.wosWOS:000470079700008
dc.publisherSPRINGERNATURE
dc.relation.ispartofGENETICS IN MEDICINE
dc.subjectARID1B
dc.subjectCoffin-Siris syndrome
dc.subjectintellectual disability
dc.subjectbias
dc.titleThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
dc.typeArticle

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