换一批Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
第一作者：
Charlotte,Guillouet
第一单位：
Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
作者：
Charlotte,Guillouet [1]
;
Valeria,Agostini [1]
;
Geneviève,Baujat [2]
;
Dario,Cocciadiferro [3]
;
Tommaso,Pippucci [4]
;
Marion,Lesieur-Sebellin [1]
;
Mathieu,Georget [1]
;
Ulrich,Schatz [5]
;
Christine,Fauth [6]
;
Raymond J,Louie [7]
;
Curtis,Rogers [7]
;
Jessica M,Davis [7]
;
Vassiliki,Konstantopoulou [8]
;
Johannes A,Mayr [9]
;
Arjan,Bouman [10]
;
Martina,Wilke [10]
;
Grace E,VanNoy [11]
;
Eleina M,England [11]
;
Kristen L,Park [12]
;
Kathleen,Brown [13]
;
Margarita,Saenz [13]
;
Antonio,Novelli [3]
;
Maria Cristina,Digilio [14]
;
Gioia,Mastromoro [15]
;
Mauro Ciro Antonio,Rongioletti [15]
;
Gerardo,Piacentini [16]
;
Rauan,Kaiyrzhanov [17]
;
Sughra,Guliyeva [18]
;
Lala,Hasanova [19]
;
Deborah,Shears [20]
;
Ishita,Bhatnagar [20]
;
Karen,Stals [21]
;
Oliver,Klaas [22]
;
Judit,Horvath [22]
;
University of Washington Center for Mendelian Genomics [23]
;
Patrice,Bouvagnet [24]
;
P Dane,Witmer [25]
;
Gretchen,MacCarrick [25]
;
Katarina,Cisarova [26]
;
Jean-Marc,Good [27]
;
Svetlana,Gorokhova [28]
;
Odile,Boute [29]
;
Thomas,Smol [29]
;
Ange-Line,Bruel [30]
;
Olivier,Patat [31]
;
Julia R,Broadbent [32]
;
Tiong Y,Tan [33]
;
Natalie B,Tan [34]
;
Stanislas,Lyonnet [35]
;
Tiffany,Busa [36]
;
Claudio,Graziano [37]
;
Jeanne,Amiel [35]
;
Christopher T,Gordon [38]
作者单位：
Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
[1]
Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
[2]
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
[3]
IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy.
[4]
Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
[5]
Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
[6]
Greenwood Genetic Center, Greenwood, SC, USA.
[7]
Department of Pediatrics and Adolescent Medicine, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.
[8]
University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University, 5020 Salzburg, Austria.
[9]
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
[10]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[11]
Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, USA.
[12]
University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
[13]
Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
[14]
Department of Laboratory Science, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.
[15]
Fetal and Neonatal Cardiology Unit, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.
[16]
Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
[17]
MediClub Hospital, Baku, Azerbaijan.
[18]
Caspian International Hospital, Baku, Azerbaijan.
[19]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[20]
Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
[21]
Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
[22]
University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
[23]
Département de Génétique, Laboratoire Eurofins Biomnis, 69007 Lyon, France; Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital MFME, CHU Martinique, Fort de France, France.
[24]
McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.
[25]
Division of Oncology, Department of Internal Medicine, Medical University of Graz, 8036 Graz, Austria.
[26]
Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
[27]
Aix Marseille University, INSERM, MMG, U 1251, 13005 Marseille, France; Department of Medical Genetics, Timone Children's Hospital, AP-HM, 13005 Marseille, France.
[28]
University Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement Embryonnaire et du Métabolisme, 59000 Lille, France.
[29]
INSERM UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000 Dijon, France; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000 Dijon, France.
[30]
Department of Medical Genetics, CHU Toulouse Purpan, Toulouse, France.
[31]
Rare Disease Discovery Group, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
[32]
Rare Disease Discovery Group, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
[33]
Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
[34]
Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
[35]
Department of Medical Genetics, Timone Children's Hospital, AP-HM, 13005 Marseille, France.
[36]
U.O. Genetica Medica, Azienda USL della Romagna, Ravenna, Italy.
[37]
Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France. Electronic address: chris.gordon@inserm.fr.
[38]
医学主题词
人类(Humans);中介体复合物(Mediator Complex);动物(Animals);斑马鱼(Zebrafish);女(雌)性(Female);男(雄)性(Male);颅面骨畸形(Craniofacial Abnormalities);畸形, 多发性(Abnormalities, Multiple);心脏缺损, 先天性(Heart Defects, Congenital);等位基因(Alleles);儿童(Child);小鼠(Mice);儿童, 学龄前(Child, Preschool);突变(Mutation);发育障碍(Developmental Disabilities);表型(Phenotype);系谱(Pedigree)
DOI
10.1016/j.ajhg.2025.02.016
PMID
40081376
发布时间
2025-10-04
- 浏览0
American journal of human genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
