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The Capital Region of Denmark - a part of Copenhagen University Hospital

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

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  • Eline P J van der Sluijs
  • Sandra Jansen
  • Samantha A Vergano
  • Miho Adachi-Fukuda
  • Yasemin Alanay
  • Adila AlKindy
  • Anwar Baban
  • Allan Bayat
  • Stefanie Beck-Wödl
  • Katherine Berry
  • Emilia K Bijlsma
  • Levinus A Bok
  • Alwin F J Brouwer
  • Ineke van der Burgt
  • Philippe M Campeau
  • Natalie Canham
  • Krystyna Chrzanowska
  • Yoyo W Y Chu
  • Brain H Y Chung
  • Karin Dahan
  • Marjan De Rademaeker
  • Anne Destree
  • Tracy Dudding-Byth
  • Rachel Earl
  • Nursel Elcioglu
  • Ellen R Elias
  • Christina Fagerberg
  • Alice Gardham
  • Blanca Gener
  • Erica H Gerkes
  • Ute Grasshoff
  • Arie van Haeringen
  • Karin R Heitink
  • Johanna C Herkert
  • Nicolette S den Hollander
  • Denise Horn
  • David Hunt
  • Sarina G Kant
  • Mitsuhiro Kato
  • Hülya Kayserili
  • Rogier Kersseboom
  • Esra Kilic
  • Malgorzata Krajewska-Walasek
  • Kylin Lammers
  • Lone W Laulund
  • Damien Lederer
  • Melissa Lees
  • Vanesa López-González
  • Saskia Maas
  • Grazia M S Mancini
  • Carlo Marcelis
  • Francisco Martinez
  • Isabelle Maystadt
  • Marianne McGuire
  • Shane McKee
  • Sarju Mehta
  • Kay Metcalfe
  • Jeff Milunsky
  • Seiji Mizuno
  • John B Moeschler
  • Christian Netzer
  • Charlotte W Ockeloen
  • Barbara Oehl-Jaschkowitz
  • Nobuhiko Okamoto
  • Sharon N M Olminkhof
  • Carmen Orellana
  • Laurent Pasquier
  • Caroline Pottinger
  • Vera Riehmer
  • Stephen P Robertson
  • Maian Roifman
  • Caroline Rooryck
  • Fabienne G Ropers
  • Monica Rosello
  • Claudia A L Ruivenkamp
  • Mahmut S Sagiroglu
  • Suzanne C E H Sallevelt
  • Amparo Sanchis Calvo
  • Pelin O Simsek-Kiper
  • Gabriela Soares
  • Lucia Solaeche
  • Fatma Mujgan Sonmez
  • Miranda Splitt
  • Duco Steenbeek
  • Alexander P A Stegmann
  • Constance T R M Stumpel
  • Saori Tanabe
  • Eyyup Uctepe
  • G Eda Utine
  • Hermine E Veenstra-Knol
  • Sunita Venkateswaran
  • Catheline Vilain
  • Catherine Vincent-Delorme
  • Anneke T Vulto-van Silfhout
  • Patricia Wheeler
  • Golder N Wilson
  • Louise C Wilson
  • Bernd Wollnik
  • Tomoki Kosho
  • Dagmar Wieczorek
  • Evan Eichler
  • Rolph Pfundt
  • Bert B A de Vries
  • Jill Clayton-Smith
  • Gijs W E Santen
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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.

Original languageEnglish
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Issue number6
Pages (from-to)1295-1307
Number of pages13
Publication statusPublished - Jun 2019

    Research areas

  • ARID1B, bias, Coffin–Siris syndrome, intellectual disability

ID: 55509653