换一批
换一批De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
作者：
Marine,Tessarech [1]
;
Gaëlle,Friocourt [2]
;
Florent,Marguet [3]
;
Maryline,Lecointre [3]
;
Morgane,Le Mao [4]
;
Rodrigo Muñoz,Díaz [4]
;
Cyril,Mignot [5]
;
Boris,Keren [6]
;
Bénédicte,Héron [7]
;
Charlotte,De Bie [8]
;
Koen,Van Gassen [8]
;
Didier,Loisel [9]
;
Benoit,Delorme [9]
;
Steffen,Syrbe [10]
;
Annick,Klabunde-Cherwon [10]
;
Rami Abou,Jamra [11]
;
Meret,Wegler [11]
;
Bert,Callewaert [12]
;
Annelies,Dheedene [12]
;
Merzouka,Zidane-Marinnes [13]
;
Agnès,Guichet [14]
;
Céline,Bris [14]
;
Patrick,Van Bogaert [15]
;
Florence,Biquard [16]
;
Guy,Lenaers [4]
;
Pascale,Marcorelles [17]
;
Claude,Ferec [2]
;
Bruno,Gonzalez [3]
;
Vincent,Procaccio [14]
;
Antonio,Vitobello [18]
;
Dominique,Bonneau [14]
;
Annie,Laquerriere [3]
;
Salim,Khiati [4]
;
Estelle,Colin [19]
作者单位：
Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: marine.tessarech@chu-lille.fr.
[1]
INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France.
[2]
Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France.
[3]
Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France.
[4]
Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group "Intellectual Disabilities and Autism" Paris, France.
[5]
Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group "Intellectual Disabilities and Autism" Paris, France; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
[6]
Sorbonne University, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, Paris, France; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University, Paris, France.
[7]
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[8]
Department of Radiology, Angers University Hospital, Angers, France.
[9]
Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany.
[10]
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[11]
Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium.
[12]
Department of Pathology, Angers University Hospital, Angers, France.
[13]
Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France.
[14]
Department of Neuropediatrics, Angers University Hospital, Angers, France.
[15]
Department of Gynecology, Angers University Hospital, Angers, France.
[16]
Department of Pathology, Brest University Hospital, Brest, France.
[17]
UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD (Génétique des Anomalies du Développement), FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
[18]
Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: escolin@chu-angers.fr.
[19]
主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);男(雄)性(Male);癫痫(Epilepsy);杂合子(Heterozygote);中间神经元(Interneurons);突变, 误义(Mutation, Missense);表型(Phenotype);转录因子(Transcription Factors);Sp转录因子类(Sp Transcription Factors)
DOI
10.1016/j.gim.2024.101087
PMID
38288683
发布时间
2024-06-28
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Genetics in medicine
Genetics in medicine
101087页
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