换一批
换一批Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
作者：
Elke,de Boer [1]
;
Charlotte W,Ockeloen [2]
;
Rosalie A,Kampen [3]
;
Juliet E,Hampstead [4]
;
Alexander J M,Dingemans [1]
;
Dmitrijs,Rots [1]
;
Lukas,Lütje [3]
;
Tazeen,Ashraf [5]
;
Rachel,Baker [6]
;
Mouna,Barat-Houari [7]
;
Brad,Angle [6]
;
Nicolas,Chatron [8]
;
Anne-Sophie,Denommé-Pichon [9]
;
Orrin,Devinsky [10]
;
Christèle,Dubourg [11]
;
Frances,Elmslie [12]
;
Houda Zghal,Elloumi [13]
;
Laurence,Faivre [14]
;
Sarah,Fitzgerald-Butt [15]
;
David,Geneviève [16]
;
Jacqueline A C,Goos [17]
;
Benjamin M,Helm [18]
;
Usha,Kini [19]
;
Amaia,Lasa-Aranzasti [20]
;
Gaetan,Lesca [8]
;
Sally A,Lynch [21]
;
Irene M J,Mathijssen [22]
;
Ruth,McGowan [23]
;
Kristin G,Monaghan [13]
;
Sylvie,Odent [24]
;
Rolph,Pfundt [25]
;
Audrey,Putoux [26]
;
Jeroen,van Reeuwijk [1]
;
Gijs W E,Santen [27]
;
Erina,Sasaki [19]
;
Arthur,Sorlin [28]
;
Peter J,van der Spek [29]
;
Alexander P A,Stegmann [30]
;
Sigrid M A,Swagemakers [29]
;
Irene,Valenzuela [20]
;
Eléonore,Viora-Dupont [31]
;
Antonio,Vitobello [9]
;
Stephanie M,Ware [32]
;
Mathys,Wéber [31]
;
Christian,Gilissen [4]
;
Karen J,Low [33]
;
Simon E,Fisher [34]
;
Lisenka E L M,Vissers [1]
;
Maggie M K,Wong [3]
;
Tjitske,Kleefstra [35]
作者单位：
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
[1]
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Electronic address: Charlotte.Ockeloen@radboudumc.nl.
[2]
Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
[3]
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.
[4]
Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
[5]
Advocate Children's Hospital, Park Ridge, IL.
[6]
Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
[7]
Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
[8]
Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.
[9]
Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY.
[10]
Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France.
[11]
South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom.
[12]
GeneDx, Gaithersburg, MD.
[13]
Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
[14]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN.
[15]
Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France.
[16]
Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
[17]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN.
[18]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
[19]
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
[20]
Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland.
[21]
Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
[22]
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom.
[23]
CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
[24]
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
[25]
Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.
[26]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[27]
Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
[28]
Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
[29]
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
[30]
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
[31]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
[32]
Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
[33]
Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
[34]
Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
[35]
主题词
畸形, 多发性(Abnormalities, Multiple);骨疾病, 发育性(Bone Diseases, Developmental);染色体缺失(Chromosome Deletion);面容(Facies);人类(Humans);突变, 误义(Mutation, Missense);表型(Phenotype);蛋白酶体内肽酶复合物(Proteasome Endopeptidase Complex);阻遏蛋白质类(Repressor Proteins);牙畸形(Tooth Abnormalities);转录因子(Transcription Factors)
DOI
10.1016/j.gim.2022.06.007
PMID
35833929
发布时间
2024-03-06
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Genetics in medicine
Genetics in medicine
2051-2064页
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