换一批SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
第一作者：
Elke,Bogaert
第一单位：
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
作者：
Elke,Bogaert [1]
;
Aurore,Garde [2]
;
Thierry,Gautier [3]
;
Kathleen,Rooney [4]
;
Yannis,Duffourd [5]
;
Pontus,LeBlanc [1]
;
Emma,van Reempts [1]
;
Frederic,Tran Mau-Them [5]
;
Ingrid M,Wentzensen [6]
;
Kit Sing,Au [7]
;
Kate,Richardson [7]
;
Hope,Northrup [7]
;
Vincent,Gatinois [8]
;
David,Geneviève [9]
;
Raymond J,Louie [10]
;
Michael J,Lyons [10]
;
Lone Walentin,Laulund [11]
;
Charlotte,Brasch-Andersen [12]
;
Trine,Maxel Juul [13]
;
Fatima,El It [14]
;
Nathalie,Marle [15]
;
Patrick,Callier [16]
;
Raissa,Relator [17]
;
Sadegheh,Haghshenas [17]
;
Haley,McConkey [4]
;
Jennifer,Kerkhof [17]
;
Claudia,Cesario [18]
;
Antonio,Novelli [18]
;
Nicola,Brunetti-Pierri [19]
;
Michele,Pinelli [19]
;
Perrine,Pennamen [20]
;
Sophie,Naudion [20]
;
Marine,Legendre [20]
;
Cécile,Courdier [20]
;
Aurelien,Trimouille [21]
;
Martine Doco,Fenzy [22]
;
Lynn,Pais [23]
;
Alison,Yeung [24]
;
Kimberly,Nugent [25]
;
Elizabeth R,Roeder [25]
;
Tadahiro,Mitani [26]
;
Jennifer E,Posey [26]
;
Daniel,Calame [27]
;
Hagith,Yonath [28]
;
Jill A,Rosenfeld [29]
;
Luciana,Musante [30]
;
Flavio,Faletra [30]
;
Francesca,Montanari [31]
;
Giovanna,Sartor [31]
;
Alessandra,Vancini [32]
;
Marco,Seri [33]
;
Claude,Besmond [34]
;
Karine,Poirier [34]
;
Laurence,Hubert [34]
;
Dimitri,Hemelsoet [35]
;
Arnold,Munnich [34]
;
James R,Lupski [36]
;
Christophe,Philippe [5]
;
Christel,Thauvin-Robinet [37]
;
Laurence,Faivre [2]
;
Bekim,Sadikovic [4]
;
Jérôme,Govin [3]
;
Bart,Dermaut [38]
;
Antonio,Vitobello [39]
作者单位：
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
[1]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs", Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
[2]
University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.
[3]
Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
[4]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
[5]
GeneDx, Gaithersburg, MD, USA.
[6]
Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.
[7]
Unité de Génétique Chromosomique, CHU Montpellier, Montpellier, France.
[8]
Montpellier University, Inserm U1183, Montpellier, France; Reference center for rare disease developmental anomaly malformative syndrome, Department of Medical Genetics, Montpellier Hospital, Montpellier, France.
[9]
Greenwood Genetic Center, Greenwood, SC, USA.
[10]
Department of Paediatrics, Odense University Hospital, Odense, Denmark.
[11]
Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Human Genetics, Department of Clinical Research, Health Faculty, University of Southern Denmark, 5000 Odense, Denmark.
[12]
Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
[13]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France.
[14]
Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.
[15]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.
[16]
Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
[17]
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[18]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
[19]
Medical Genetics Department, CHU Bordeaux, Bordeaux, France.
[20]
INSERM U1211, Laboratoire MRGM, Bordeaux University, Bordeaux, France; Pathology Department, CHU Bordeaux, Bordeaux, France.
[21]
Service de génétique, CHU de Reims, Reims, France; Service de génétique médicale, CHU de Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.
[22]
Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[23]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
[24]
Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[25]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[26]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
[27]
Internal Medicine A, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[28]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.
[29]
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
[30]
UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
[31]
Neonatal Intensive Care Unit, Maggiore Hospital, Bologna, Italy.
[32]
UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
[33]
Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.
[34]
Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium.
[35]
Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
[36]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; Centre de Référence Maladies Rares « Déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
[37]
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium. Electronic address: bart.dermaut@ugent.be.
[38]
UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.
[39]
医学主题词
儿童(Child);女(雌)性(Female);男(雄)性(Male);发育障碍(Developmental Disabilities);单倍剂量不足(Haploinsufficiency);突变, 误义(Mutation, Missense);表型(Phenotype);人类(Humans)
DOI
10.1016/j.ajhg.2023.03.016
PMID
37071997
发布时间
2025-03-25
基金项目
UM1 HG008900/HG/NHGRI NIH HHS/United States
U54 HG006542/HG/NHGRI NIH HHS/United States
R01 HG009141/HG/NHGRI NIH HHS/United States
UM1 HG006542/HG/NHGRI NIH HHS/United States
R35 NS105078/NS/NINDS NIH HHS/United States
U01 HG011758/HG/NHGRI NIH HHS/United States
- 浏览3
American journal of human genetics
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