- Title
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Creator
- van der Sluijs, Pleuntje J.; Jansen, Sandra; Bijlsma, Emilia K.; Eichler, E; Pfundt, R; de Vries, BBA; Clayton-Smith, J; Santen, GWE; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; Vergano, Samantha A.; De Rademaeker, Marjan; Destree, A; Dudding-Byth, Tracy; Earl, R; Elcioglu, N; Elias, ER; Fagerberg, C; Gardham, A; Gener, B; Gerkes, EH; Adachi-Fukuda, Miho; Grasshoff, U; van Haeringen, A; Heitink, KR; Herkert, JC; den Hollander, NS; Horn, D; Hunt, D; Kant, SG; Kato, M; Kayserili, H; Alanay, Yasemin; Kersseboom, R; Kilic, E; Krajewska-Walasek, M; Lammers, K; Laulund, LW; Lederer, D; Lees, M; Lopez-Gonzalez, V; Maas, S; Mancini, GMS; AlKindy, Adila; Marcelis, C; Martinez, F; Maystadt, I; McGuire, M; McKee, S; Mehta, S; Metcalfe, K; Milunsky, J; Mizuno, S; Moeschler, JB; Baban, Anwar; Netzer, C; Ockeloen, CW; Oehl-Jaschkowitz, B; Okamoto, N; Olminkhof, SNM; Orellana, C; Pasquier, L; Pottinger, C; Riehmer, V; Robertson, SP; Bayat, Allan; Roifman, M; Rooryck, C; Ropers, FG; Rosello, M; Ruivenkamp, CAL; Sagiroglu, MS; Sallevelt, SCEH; Sanchis Calvo, A; Simsek-Kiper, PO; Soares, G; Beck-Woedl, Stefanie; Solaeche, L; Sonmez, FM; Splitt, M; Steenbeek, D; Stegmann, APA; Stumpel, CTRM; Tanabe, S; Uctepe, E; Utine, GE; Veenstra-Knol, HE; Berry, Katherine; Venkateswaran, S; Vilain, C; Vincent-Delorme, C; Vulto-van Silfhout, AT; Wheeler, P; Wilson, GN; Wilson, LC; Wollnik, B; Kosho, T; Wieczorek, D
- Relation
- Genetics in Medicine Vol. 21, Issue 6, p. 1295-1307
- Publisher Link
- http://dx.doi.org/10.1038/s41436-018-0330-z
- Publisher
- Elsevier
- Resource Type
- journal article
- Date
- 2019
- Description
- 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 (ARID1B-CSS) 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 web-based 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 ARID1B-ID 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.
- Subject
- ARID1B; Coffin-Siris syndrome; intellectual disability; bias
- Identifier
- http://hdl.handle.net/1959.13/1507324
- Identifier
- uon:56005
- Identifier
- ISSN:1098-3600
- Rights
- x
- Language
- eng
- Reviewed
- Hits: 215
- Visitors: 193
- Downloads: 0