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

Autor:	van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA., Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan., Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey., AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman., Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy., Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark., Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands., Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands., van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom., Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium., Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia., Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey., Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom., Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands., Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey., Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands., Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey., Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA., Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark., Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom., López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland., Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom., Metcalfe K; 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., Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA., Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan., Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA., Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France., Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom., Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany., Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey., Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Sanchis Calvo A; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain., Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey., Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal., Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain., Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey., Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom., Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands., Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan., Uctepe E; Enva Engineering, Ankara, Turkey., Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey., Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium., Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA., Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA., Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Clayton-Smith J; 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., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.
DOI:	10.1038/s41436-018-0330-z
Abstrakt:	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.
Databáze:	MEDLINE
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