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Title :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Authors :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Source :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Publication Type :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Academic Journal
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