换一批
换一批Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
作者：
Dmitrijs,Rots [1]
;
Sanaa,Choufani [2]
;
Victor,Faundes [3]
;
Alexander J M,Dingemans [4]
;
Shelagh,Joss [5]
;
Nicola,Foulds [6]
;
Elizabeth A,Jones [7]
;
Sarah,Stewart [8]
;
Pradeep,Vasudevan [9]
;
Tabib,Dabir [10]
;
Soo-Mi,Park [11]
;
Rosalyn,Jewell [12]
;
Natasha,Brown [13]
;
Lynn,Pais [14]
;
Sébastien,Jacquemont [15]
;
Khadijé,Jizi [16]
;
Conny M A van,Ravenswaaij-Arts [17]
;
Hester Y,Kroes [18]
;
Constance T R M,Stumpel [19]
;
Charlotte W,Ockeloen [4]
;
Illja J,Diets [4]
;
Mathilde,Nizon [20]
;
Marie,Vincent [20]
;
Benjamin,Cogné [20]
;
Thomas,Besnard [20]
;
Marios,Kambouris [21]
;
Emily,Anderson [22]
;
Elaine H,Zackai [23]
;
Carey,McDougall [24]
;
Sarah,Donoghue [24]
;
Anne,O'Donnell-Luria [14]
;
Zaheer,Valivullah [25]
;
Melanie,O'Leary [26]
;
Siddharth,Srivastava [27]
;
Heather,Byers [28]
;
Nancy,Leslie [29]
;
Sarah,Mazzola [30]
;
George E,Tiller [31]
;
Moin,Vera [31]
;
Joseph J,Shen [32]
;
Richard,Boles [33]
;
Vani,Jain [34]
;
Elise,Brischoux-Boucher [35]
;
Esther,Kinning [36]
;
Brittany N,Simpson [37]
;
Jacques C,Giltay [18]
;
Jacqueline,Harris [38]
;
Boris,Keren [39]
;
Anne,Guimier [40]
;
Pierre,Marijon [41]
;
Bert B A de,Vries [4]
;
Constance S,Motter [42]
;
Bryce A,Mendelsohn [43]
;
Samantha,Coffino [44]
;
Erica H,Gerkes [45]
;
Alexandra,Afenjar [46]
;
Paola,Visconti [47]
;
Elena,Bacchelli [48]
;
Elena,Maestrini [48]
;
Andree,Delahaye-Duriez [49]
;
Catherine,Gooch [50]
;
Yvonne,Hendriks [51]
;
Hieab,Adams [52]
;
Christel,Thauvin-Robinet [53]
;
Sarah,Josephi-Taylor [54]
;
Marta,Bertoli [55]
;
Michael J,Parker [56]
;
Julie W,Rutten [51]
;
Oana,Caluseriu [57]
;
Hilary J,Vernon [58]
;
Jonah,Kaziyev [59]
;
Jia,Zhu [59]
;
Jessica,Kremen [60]
;
Zoe,Frazier [61]
;
Hailey,Osika [61]
;
David,Breault [59]
;
Sreelata,Nair [62]
;
Suzanne M E,Lewis [63]
;
Fabiola,Ceroni [64]
;
Marta,Viggiano [48]
;
Annio,Posar [65]
;
Helen,Brittain [66]
;
Traficante,Giovanna [67]
;
Gori,Giulia [68]
;
Lina,Quteineh [69]
;
Russia,Ha-Vinh Leuchter [70]
;
Evelien,Zonneveld-Huijssoon [45]
;
Cecilia,Mellado [71]
;
Isabelle,Marey [72]
;
Alicia,Coudert [72]
;
Mariana Inés,Aracena Alvarez [73]
;
Milou G P,Kennis [4]
;
Arianne,Bouman [4]
;
Maian,Roifman [74]
;
María Inmaculada,Amorós Rodríguez [75]
;
Juan Dario,Ortigoza-Escobar [76]
;
Vivian,Vernimmen [19]
;
Margje,Sinnema [77]
;
Rolph,Pfundt [4]
;
Han G,Brunner [78]
;
Lisenka E L M,Vissers [79]
;
Tjitske,Kleefstra [80]
;
Rosanna,Weksberg [81]
;
Siddharth,Banka [82]
作者单位：
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.
[1]
Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
[2]
Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[3]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
[4]
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
[5]
Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.
[6]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[7]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
[8]
Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK.
[9]
Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.
[10]
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
[11]
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
[12]
Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia.
[13]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[14]
Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
[15]
Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada.
[16]
University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands.
[17]
Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
[18]
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.
[19]
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
[20]
Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar.
[21]
Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
[22]
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[23]
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[24]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[25]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
[26]
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[27]
Department of Pediatrics, Stanford University, Stanford, CA, USA.
[28]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[29]
Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.
[30]
Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.
[31]
Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA.
[32]
NeuraBilities Healthcare, Philadelphia, PA, USA.
[33]
All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK.
[34]
Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France.
[35]
Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK.
[36]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
[37]
Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[38]
Department of Genetics, APHP Sorbonne University, Paris, France.
[39]
Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
[40]
Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France.
[41]
Genetic Center, Akron Children's Hospital, Akron, OH, USA.
[42]
Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA.
[43]
Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA.
[44]
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
[45]
APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France.
[46]
IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy.
[47]
Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.
[48]
Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.
[49]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
[50]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[51]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
[52]
Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
[53]
Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
[54]
Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK.
[55]
Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
[56]
Department of Medical Genetics, University of Alberta, Edmonton, Canada.
[57]
Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[58]
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[59]
Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[60]
Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[61]
Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India.
[62]
Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.
[63]
Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
[64]
IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
[65]
Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK.
[66]
Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy.
[67]
Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy.
[68]
Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.
[69]
Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland.
[70]
Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
[71]
CHU Grenoble Alpes, Grenoble, France.
[72]
Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
[73]
The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada.
[74]
Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain.
[75]
Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.
[76]
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
[77]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
[78]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
[79]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
[80]
Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.
[81]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[82]
主题词
人类(Humans);畸形, 多发性(Abnormalities, Multiple);前庭疾病(Vestibular Diseases);面部(Face);DNA结合蛋白质类(DNA-Binding Proteins);男(雄)性(Male);女(雌)性(Female);血液病(Hematologic Diseases);颅面骨畸形(Craniofacial Abnormalities);染色体缺失(Chromosome Deletion);染色体, 人, 9对(Chromosomes, Human, Pair 9);儿童(Child);DNA甲基化(DNA Methylation);儿童, 学龄前(Child, Preschool);肿瘤蛋白质类(Neoplasm Proteins);青少年(Adolescent);多毛(Hypertrichosis);突变(Mutation);长势不能(Failure to Thrive);组蛋白赖氨酸N-甲基转移酶(Histone-Lysine N-Methyltransferase);心脏缺损, 先天性(Heart Defects, Congenital)
DOI
10.1016/j.ajhg.2024.06.009
PMID
39013459
发布时间
2025-02-10
- 浏览1
American journal of human genetics
American journal of human genetics
1626-1642页
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