. 2022 Aug;24(8):1753-1760.

doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

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

Affiliations

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.

PMID: 35579625
PMCID: PMC9378544
DOI: 10.1016/j.gim.2022.04.010

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J van der Sluijs et al. Genet Med. 2022 Aug.

. 2022 Aug;24(8):1753-1760.

doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18.

Authors

Affiliations

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.

PMID: 35579625
PMCID: PMC9378544
DOI: 10.1016/j.gim.2022.04.010

Erratum in

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.

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.

Keywords: ARID1A; ARID1B BAFopathy; BAF-complex; Fetal; SMARCA4; SMARCB1.

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Conflict of interest statement

Conflict of Interest All authors declare no conflicts of interest.

References

1. Santen GWE, 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(11):1519–1528. 10.1002/humu.22394. - DOI - PubMed
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1. Kosho T, Okamoto N, Ohashi H, et al. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A. 2013;161A(6):1221–1237. 10.1002/ajmg.a.35933. - DOI - PubMed

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Affiliations

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Authors

Affiliations

Erratum in

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Miscellaneous