The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
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van der Sluijs Pleuntje J, Jansen Sandra, Vergano Samantha A, Adachi-Fukuda Miho, Alanay Yasemin, AlKindy Adila, Baban Anwar, Bayat Allan, Beck-Wödl Stefanie, Berry Katherine, Bijlsma Emilia K, 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, 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 Hülya, Kersseboom Rogier, Kilic Esra, Krajewska-Walasek Malgorzata, Lammers Kylin, Laulund Lone W, Lederer Damien, Lees Melissa, López-González Vanesa, Maas Saskia, Mancini Grazia M S, Marcelis Carlo, Martinez Francisco, Maystadt Isabelle, McGuire Marianne, McKee Shane, 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, Pasquier Laurent, Pottinger Caroline, Riehmer Vera, Robertson Stephen P, Roifman Maian, Rooryck Caroline, Ropers Fabienne G, Rosello Monica, 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, Santen Gijs W E
Аннотация
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.