Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
染色质重塑功能障碍扩大精神分裂症病因范围1例
作者: Alice PoissonNicolas ChatronAudrey LabalmePierre FourneretDorothée VilleMarie Laure MathieuDamien SanlavilleCaroline DemilyGaëtan Lesca
作者单位: 1GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Q19 Team (Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University), le Vinatier, 69500, Bron, CH, France
2Institut Neuromyogène, métabolisme énergétique et développement durable, CNRS UMR 5310, INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France
3Service de psychopathologie du développement, hôpital Femme-Mère-Enfant, hospices civils de Lyon, 69677, Bron cedex, France
4Institut des sciences cognitives CNRS UMR, 530467 boulevard Pinel, 69675, Bron cedex, France
5Faculté de médecine Lyon-Est, université Claude-Bernard - Lyon 1, 69003, Lyon, France
6Département de Neurologie Pédiatrique et Centre de Référence des Epilepsies Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Centre Hospitalier Universitaire de Lyon, Lyon, France
7Neuropaediatrics Department, Femme Mère Enfant Hospital, Lyon, France
8Claude Bernard Lyon 1 Un
刊名: BMC Medical Genetics, 2020, Vol.21 (1), pp.568-572
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-019-0946-0
关键词: SchizophreniaChildhood onset schizophreniaCHD2Genetic counsellingChromatinChromodomain helicase DNA-binding
英文摘要: Abstract(#br)Background(#br)The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. Case presentation(#br)The proband was the second child of unrelated parents. Anxiety and sleep disorders appeared at the age of 10 months. He presented febrile seizures and, at the age of 8, two generalized tonic-clonic seizures. At the age of 10, emotional withdrawal emerged, along with a flat affect, disorganization and paranoid ideation, without seizures. He began to talk and giggle with self. Eventually, the patient presented daily auditory and visual...
全文获取路径: Springer Nature  (合作)
分享到:
来源刊物:
影响因子:2.536 (2012)

×