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

doi:10.1038/s41436-018-0330-z

. 2019 Jun;21(6):1295-1307.

doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.

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

Pleuntje J van der Sluijs¹, Sandra Jansen², Samantha A Vergano³, Miho Adachi-Fukuda⁴, Yasemin Alanay⁵, Adila AlKindy⁶, Anwar Baban⁷, Allan Bayat⁸, Stefanie Beck-Wödl⁹, Katherine Berry¹⁰, Emilia K Bijlsma¹, Levinus A Bok¹¹, Alwin F J Brouwer¹², Ineke van der Burgt¹³, Philippe M Campeau¹⁴, Natalie Canham^{15

16}, Krystyna Chrzanowska¹⁷, Yoyo W Y Chu¹⁸, Brain H Y Chung¹⁸, Karin Dahan¹⁹, Marjan De Rademaeker²⁰, Anne Destree¹⁹, Tracy Dudding-Byth²¹, Rachel Earl²², Nursel Elcioglu²³, Ellen R Elias²⁴, Christina Fagerberg²⁵, Alice Gardham¹⁵, Blanca Gener²⁶, Erica H Gerkes²⁷, Ute Grasshoff⁹, Arie van Haeringen¹, Karin R Heitink²⁸, Johanna C Herkert²⁷, Nicolette S den Hollander¹, Denise Horn²⁹, David Hunt³⁰, Sarina G Kant¹, Mitsuhiro Kato³¹, Hülya Kayserili³², Rogier Kersseboom³³, Esra Kilic³⁴, Malgorzata Krajewska-Walasek¹⁷, Kylin Lammers³⁵, Lone W Laulund³⁶, Damien Lederer¹⁹, Melissa Lees³⁷, Vanesa López-González³⁸, Saskia Maas³⁹, Grazia M S Mancini³³, Carlo Marcelis², Francisco Martinez⁴⁰, Isabelle Maystadt¹⁹, Marianne McGuire⁴¹, Shane McKee⁴², Sarju Mehta⁴³, Kay Metcalfe⁴⁴, Jeff Milunsky⁴⁵, Seiji Mizuno⁴⁶, John B Moeschler⁴⁷, Christian Netzer⁴⁸, Charlotte W Ockeloen², Barbara Oehl-Jaschkowitz⁴⁹, Nobuhiko Okamoto⁵⁰, Sharon N M Olminkhof⁵¹, Carmen Orellana⁴⁰, Laurent Pasquier⁵², Caroline Pottinger⁵³, Vera Riehmer⁴⁸, Stephen P Robertson⁵⁴, Maian Roifman^{55

56}, Caroline Rooryck⁵⁷, Fabienne G Ropers⁵⁸, Monica Rosello⁴⁰, Claudia A L Ruivenkamp¹, Mahmut S Sagiroglu⁵⁹, Suzanne C E H Sallevelt⁶⁰, Amparo Sanchis Calvo⁶¹, Pelin O Simsek-Kiper⁶², Gabriela Soares⁶³, Lucia Solaeche⁶⁴, Fatma Mujgan Sonmez⁶⁵, Miranda Splitt⁶⁶, Duco Steenbeek²⁸, Alexander P A Stegmann⁶⁰, Constance T R M Stumpel⁶⁰, Saori Tanabe⁶⁷, Eyyup Uctepe⁶⁸, G Eda Utine⁶², Hermine E Veenstra-Knol²⁷, Sunita Venkateswaran⁶⁹, Catheline Vilain^{70

71}, Catherine Vincent-Delorme⁷², Anneke T Vulto-van Silfhout², Patricia Wheeler⁷³, Golder N Wilson⁷⁴, Louise C Wilson³⁷, Bernd Wollnik⁷⁵, Tomoki Kosho⁷⁶, Dagmar Wieczorek⁷⁷, Evan Eichler⁷⁸, Rolph Pfundt², Bert B A de Vries², Jill Clayton-Smith⁴⁴, Gijs W E Santen⁷⁹

Affiliations

¹ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
² Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
³ Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
⁴ Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
⁵ School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
⁶ Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
⁷ Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
⁸ Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
⁹ Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
¹⁰ Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
¹¹ Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
¹² Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
¹³ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
¹⁴ Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
¹⁵ North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
¹⁶ Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
¹⁷ Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
¹⁸ Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
¹⁹ Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
²⁰ Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
²¹ Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
²² Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
²³ Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
²⁴ Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
²⁵ Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
²⁶ Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
²⁷ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
²⁸ Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
²⁹ Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
³⁰ Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
³¹ Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
³² Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
³³ Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
³⁴ Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
³⁵ Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
³⁶ Department of Paediatrics, Odense University Hospital, Odense, Denmark.
³⁷ Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
³⁸ Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
³⁹ Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
⁴⁰ Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
⁴¹ Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
⁴² Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
⁴³ East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
⁴⁴ Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
⁴⁵ Center for Human Genetics Inc, Cambridge, MA, USA.
⁴⁶ Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
⁴⁷ Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
⁴⁸ Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
⁴⁹ Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
⁵⁰ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
⁵¹ Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
⁵² CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
⁵³ All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
⁵⁴ Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
⁵⁵ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
⁵⁶ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
⁵⁷ Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
⁵⁸ Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
⁵⁹ Genpute Computation Technologies Company, Istanbul, Turkey.
⁶⁰ Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
⁶¹ Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
⁶² Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
⁶³ Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
⁶⁴ Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
⁶⁵ Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
⁶⁶ Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
⁶⁷ Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
⁶⁸ Enva Engineering, Ankara, Turkey.
⁶⁹ Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
⁷⁰ Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
⁷¹ Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
⁷² Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
⁷³ Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
⁷⁴ KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
⁷⁵ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
⁷⁶ Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
⁷⁷ Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
⁷⁸ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁷⁹ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.

PMID: 30349098
PMCID: PMC6752273
DOI: 10.1038/s41436-018-0330-z

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

Pleuntje J van der Sluijs et al. Genet Med. 2019 Jun.

. 2019 Jun;21(6):1295-1307.

doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.

Authors

Affiliations

¹ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
² Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
³ Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
⁴ Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
⁵ School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
⁶ Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
⁷ Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
⁸ Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
⁹ Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
¹⁰ Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
¹¹ Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
¹² Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
¹³ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
¹⁴ Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
¹⁵ North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
¹⁶ Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
¹⁷ Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
¹⁸ Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
¹⁹ Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
²⁰ Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
²¹ Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
²² Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
²³ Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
²⁴ Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
²⁵ Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
²⁶ Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
²⁷ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
²⁸ Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
²⁹ Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
³⁰ Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
³¹ Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
³² Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
³³ Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
³⁴ Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
³⁵ Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
³⁶ Department of Paediatrics, Odense University Hospital, Odense, Denmark.
³⁷ Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
³⁸ Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
³⁹ Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
⁴⁰ Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
⁴¹ Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
⁴² Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
⁴³ East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
⁴⁴ Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
⁴⁵ Center for Human Genetics Inc, Cambridge, MA, USA.
⁴⁶ Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
⁴⁷ Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
⁴⁸ Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
⁴⁹ Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
⁵⁰ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
⁵¹ Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
⁵² CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
⁵³ All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
⁵⁴ Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
⁵⁵ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
⁵⁶ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
⁵⁷ Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
⁵⁸ Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
⁵⁹ Genpute Computation Technologies Company, Istanbul, Turkey.
⁶⁰ Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
⁶¹ Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
⁶² Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
⁶³ Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
⁶⁴ Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
⁶⁵ Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
⁶⁶ Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
⁶⁷ Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
⁶⁸ Enva Engineering, Ankara, Turkey.
⁶⁹ Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
⁷⁰ Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
⁷¹ Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
⁷² Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
⁷³ Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
⁷⁴ KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
⁷⁵ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
⁷⁶ Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
⁷⁷ Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
⁷⁸ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁷⁹ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.

PMID: 30349098
PMCID: PMC6752273
DOI: 10.1038/s41436-018-0330-z

Erratum in

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik … See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. Genet Med. 2019. PMID: 30696996 Free PMC article.

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 (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.

Keywords: ARID1B; Coffin–Siris syndrome; bias; intellectual disability.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

**Fig. 1. Overview of the location of pathogenic variants in *ARID1B*.**
Numbers represent exon numbers and a graphical representation of in-frame and out-frame exons. When an exon ends with a complete codon, a vertical line is displayed. If it has one additional base an arrow to the left is displayed, and two additional bases are indicated by an arrow to the right. In-frame exons thus have the same boundary on both sides of the exon. Small variants (defined as events ≤20 bases) are identified by the arrows above the exon structure; larger variants are shown as lines under the intron–exon structure. All large events were deletions. Only unique variants are shown. Uninterrupted lines represent variants in ARID1B-CSS patients; interrupted lines represent variants in ARID1B-ID patients.

**Fig. 2. Biometry and developmental milestones.**
Histograms of the standard deviation score (SDS) of (a) height, n = 122; (b) weight, n = 92; and (c) occipitofrontal circumference (OFC), n = 105. (d) Cumulative distribution of the developmental milestones walking (n = 117) and sitting (n = 85) for ARID1B-CSS and ARID1B-ID. (e) Kaplan–Meier plot for the whole cohort of the age at which patients spoke their first words (n = 126). Confidence intervals of Kaplan–Meier plots are generated by R’s survfit function.

**Fig. 3. Degree of intellectual disability and survival analyses of seizures and hypothyroidism.**
(a) Intellectual disability (ID) category as assessed by the treating physician, n = 127; and (b) IQ scores (determined at different ages using different scales), n = 35 for ARID1B-CSS and ARID1B-ID patients. (c) Kaplan–Meier plot for age of onset of seizures, n = 37 and (d) Kaplan–Meier plot for the age at which hypothyroidism was diagnosed, n = 10. Confidence intervals of Kaplan–Meier plots are generated by R’s survfit function.

See this image and copyright information in PMC

Comment in

Response to Gorokhova et al.
van der Sluijs EPJ, Ruivenkamp CAL, Santen GWE. van der Sluijs EPJ, et al. Genet Med. 2019 Nov;21(11):2656-2657. doi: 10.1038/s41436-019-0547-5. Epub 2019 May 20. Genet Med. 2019. PMID: 31105272 No abstract available.
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C. Gorokhova S, et al. Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. Epub 2019 May 20. Genet Med. 2019. PMID: 31105273 No abstract available.

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1. Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14. doi: 10.1016/S0140-6736(14)61705-0. - DOI - PMC - PubMed
1. Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012;90:565–72. doi: 10.1016/j.ajhg.2012.02.007. - DOI - PMC - PubMed
1. Deciphering Developmental Disorders Study.. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8. doi: 10.1038/nature14135. - DOI - PMC - PubMed
1. Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34:1519–28. doi: 10.1002/humu.22394. - DOI - PubMed
1. Wieczorek D, Bogershausen N, Beleggia F, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22:5121–35. doi: 10.1093/hmg/ddt366. - DOI - PubMed

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[1] Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14. doi: 10.1016/S0140-6736(14)61705-0. - DOI - PMC - PubMed

[2] Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14. doi: 10.1016/S0140-6736(14)61705-0. - DOI - PMC - PubMed

[3] Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012;90:565–72. doi: 10.1016/j.ajhg.2012.02.007. - DOI - PMC - PubMed

[4] Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012;90:565–72. doi: 10.1016/j.ajhg.2012.02.007. - DOI - PMC - PubMed

[5] Deciphering Developmental Disorders Study.. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8. doi: 10.1038/nature14135. - DOI - PMC - PubMed

[6] Deciphering Developmental Disorders Study.. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8. doi: 10.1038/nature14135. - DOI - PMC - PubMed

[7] Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34:1519–28. doi: 10.1002/humu.22394. - DOI - PubMed

[8] Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34:1519–28. doi: 10.1002/humu.22394. - DOI - PubMed

[9] Wieczorek D, Bogershausen N, Beleggia F, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22:5121–35. doi: 10.1093/hmg/ddt366. - DOI - PubMed

[10] Wieczorek D, Bogershausen N, Beleggia F, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22:5121–35. doi: 10.1093/hmg/ddt366. - DOI - PubMed

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

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

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