Pleuntje J van der Sluijs1, Marieke Joosten2, Caroline Alby3, Tania Attié-Bitach3, Kelly Gilmore4, Christele Dubourg5, Mélanie Fradin6, Tianyun Wang7, Evangeline C Kurtz-Nelson8, Kaitlyn P Ahlers8, Peer Arts9, Christopher P Barnett10, Myla Ashfaq11, Anwar Baban12, Myrthe van den Born2, Sarah Borrie11, Tiffany Busa13, Alicia Byrne14, Miriam Carriero15, Claudia Cesario16, Karen Chong17, Anna Maria Cueto-González18, Jennifer C Dempsey19, Karin E M Diderich2, Dan Doherty20, Stense Farholt21, Erica H Gerkes22, Svetlana Gorokhova23, Lutgarde C P Govaerts2, Pernille A Gregersen24, Scott E Hickey25, Mathilde Lefebvre26, Francesca Mari15, Jelena Martinovic27, Hope Northrup11, Melanie O'Leary28, Kareesma Parbhoo29, Sophie Patrier30, Bernt Popp31, Fernando Santos-Simarro32, Corinna Stoltenburg33, Christel Thauvin-Robinet34, Elisabeth Thompson10, Anneke T Vulto-van Silfhout35, Farah R Zahir36, Hamish S Scott37, Rachel K Earl8, Evan E Eichler38, Neeta L Vora4, Yael Wilnai39, Jessica L Giordano40, Ronald J Wapner40, Jill A Rosenfeld41, Monique C Haak42, Gijs W E Santen43. 1. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 2. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands. 3. Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France. 4. Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC. 5. Department of Molecular Genetics and Genomics, Rennes University Hospital Center (CHU), Rennes, France. 6. Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France. 7. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA. 8. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA. 9. Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. 10. Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia. 11. Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX. 12. Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy. 13. Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France. 14. Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia. 15. Medical Genetics, University of Siena, Siena, Italy. 16. Medical Genetics Lab, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy. 17. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. 18. Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. 19. Department of Pediatrics, University of Washington, Seattle, WA. 20. Department of Pediatrics, University of Washington, Seattle, WA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA. 21. Department of Children and Adolescents, University Hospital Rigshospitalet, Copenhagen, Denmark. 22. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 23. Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France; Aix Marseille University, INSERM, Marseille Medical Genetics, U 1251, Marseille, France. 24. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark. 25. Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH. 26. Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Functional Unit of Fœtal Pathology, Pathological Anatomy Department, CHR Orleans, Orleans, France. 27. Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; Unit of Fetal Pathology, Antoine Beclere Hospital, AP-HP, Clamart, France. 28. Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA. 29. Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH. 30. Department of Pathology, CHU Charles Nicolle, Rouen, France. 31. Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. 32. Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. 33. Department of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany. 34. Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Reference Center for Rare Diseases, « Intellectual Disabilities from rare causes », CHU Dijon Bourgogne, F21000 Dijon, France. 35. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. 36. Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada. 37. Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. 38. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA; Howard Hughes Medical Institute, University of Washington, Seattle, WA. 39. Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 40. Institute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY. 41. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX. 42. Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, Netherlands. 43. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.
Abstract
PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes. METHODS: Clinical data was collected through an extensive web-based survey. RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%). CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.
PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes. METHODS: Clinical data was collected through an extensive web-based survey. RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%). CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.
Authors: Ivo F A C Fokkema; Peter E M Taschner; Gerard C P Schaafsma; J Celli; Jeroen F J Laros; Johan T den Dunnen Journal: Hum Mutat Date: 2011-02-22 Impact factor: 4.878
Authors: Kate E Stanley; Jessica Giordano; Vanessa Thorsten; Christie Buchovecky; Amanda Thomas; Mythily Ganapathi; Jun Liao; Avinash V Dharmadhikari; Anya Revah-Politi; Michelle Ernst; Natalie Lippa; Halie Holmes; Gundula Povysil; Joseph Hostyk; Corette B Parker; Robert Goldenberg; George R Saade; Donald J Dudley; Halit Pinar; Carol Hogue; Uma M Reddy; Robert M Silver; Vimla Aggarwal; Andrew S Allen; Ronald J Wapner; David B Goldstein Journal: N Engl J Med Date: 2020-08-12 Impact factor: 91.245
Authors: Jenny Lord; Dominic J McMullan; Ruth Y Eberhardt; Gabriele Rinck; Susan J Hamilton; Elizabeth Quinlan-Jones; Elena Prigmore; Rebecca Keelagher; Sunayna K Best; Georgina K Carey; Rhiannon Mellis; Sarah Robart; Ian R Berry; Kate E Chandler; Deirdre Cilliers; Lara Cresswell; Sandra L Edwards; Carol Gardiner; Alex Henderson; Simon T Holden; Tessa Homfray; Tracy Lester; Rebecca A Lewis; Ruth Newbury-Ecob; Katrina Prescott; Oliver W Quarrell; Simon C Ramsden; Eileen Roberts; Dagmar Tapon; Madeleine J Tooley; Pradeep C Vasudevan; Astrid P Weber; Diana G Wellesley; Paul Westwood; Helen White; Michael Parker; Denise Williams; Lucy Jenkins; Richard H Scott; Mark D Kilby; Lyn S Chitty; Matthew E Hurles; Eamonn R Maher Journal: Lancet Date: 2019-01-31 Impact factor: 202.731
Authors: Enrique Audain; Anna Wilsdon; Jeroen Breckpot; Jose M G Izarzugaza; Tomas W Fitzgerald; Anne-Karin Kahlert; Alejandro Sifrim; Florian Wünnemann; Yasset Perez-Riverol; Hashim Abdul-Khaliq; Mads Bak; Anne S Bassett; D Woodrow Benson; Felix Berger; Ingo Daehnert; Koenraad Devriendt; Sven Dittrich; Piers Ef Daubeney; Vidu Garg; Karl Hackmann; Kirstin Hoff; Philipp Hofmann; Gregor Dombrowsky; Thomas Pickardt; Ulrike Bauer; Bernard D Keavney; Sabine Klaassen; Hans-Heiner Kramer; Christian R Marshall; Dianna M Milewicz; Scott Lemaire; Joseph S Coselli; Michael E Mitchell; Aoy Tomita-Mitchell; Siddharth K Prakash; Karl Stamm; Alexandre F R Stewart; Candice K Silversides; Reiner Siebert; Brigitte Stiller; Jill A Rosenfeld; Inga Vater; Alex V Postma; Almuth Caliebe; J David Brook; Gregor Andelfinger; Matthew E Hurles; Bernard Thienpont; Lars Allan Larsen; Marc-Phillip Hitz Journal: PLoS Genet Date: 2021-07-29 Impact factor: 6.020
Authors: Nathaly M Sweeney; Shareef A Nahas; Shimul Chowdhury; Miguel Del Campo; Marilyn C Jones; David P Dimmock; Stephen F Kingsmore Journal: Cold Spring Harb Mol Case Stud Date: 2018-06-01
Authors: Yoel Gofin; Xiaonan Zhao; Amanda Gerard; Fernando Scaglia; Michael F Wangler; Samantha A Schrier Vergano; Daryl A Scott Journal: Am J Med Genet A Date: 2022-07-07 Impact factor: 2.578