腭心面综合征与精神障碍：对精神科遗传学的启示
Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.
作者信息
Chow E W, Bassett A S, Weksberg R
机构信息
Department of Psychiatry, Queen Street Mental Health Centre, Toronto, Ontario, Canada.
出版信息
Am J Med Genet. 1994 Jun 15;54(2):107-12. doi: 10.1002/ajmg.1320540205.
Abstract
Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients--one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS--are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia.
摘要
在长期随访中，超过10%的腭心面综合征（VCFS）患者被报告患有精神疾病。为了进一步探究成年期与VCFS相关的行为和精神方面的表现，本报告描述了两名患者的详细临床病史——一名患有VCFS且患上精神病的患者，以及一名被发现具有与VCFS相关的畸形特征的精神分裂症患者。这两名患者中观察到的身体和精神症状重叠表明，VCFS和精神疾病可能共享一种致病机制。这可能与VCFS和精神病的邻接基因模型一致，提示22q11染色体作为精神分裂症基因研究的一个可能候选区域。
相似文献
1
Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.腭心面综合征与精神障碍：对精神科遗传学的启示
Am J Med Genet. 1994 Jun 15;54(2):107-12. doi: 10.1002/ajmg.1320540205.
2
Schizophrenia-like illness in velo-cardio-facial syndrome: a genetic subsyndrome of schizophrenia?
J Psychosom Res. 2002 Aug;53(2):721-7. doi: 10.1016/s0022-3999(02)00431-2.
3
The psychopathological phenotype of velo-cardio-facial syndrome.腭心面综合征的精神病理表型。
Ann Genet. 2002 Apr-Jun;45(2):89-95. doi: 10.1016/s0003-3995(02)01114-0.
4
Clozapine treatment of psychosis associated with velo-cardio-facial syndrome: benefits and risks.氯氮平治疗与腭心面综合征相关的精神病：益处与风险。
J Intellect Disabil Res. 2005 Jul;49(Pt 7):567-70. doi: 10.1111/j.1365-2788.2005.00708.x.
5
Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.患有精神疾病的腭心面综合征患者的分子分析。
Am J Hum Genet. 1997 Apr;60(4):851-9.
6
Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders.腭心面综合征：22q11微缺失对精神分裂症和心境障碍的影响。
Am J Med Genet. 2001 May 8;105(4):354-62. doi: 10.1002/ajmg.1359.
7
Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study.22号染色体q11缺失、腭心面综合征与早发性精神病。分子遗传学研究。
Br J Psychiatry. 2003 Nov;183:409-13. doi: 10.1192/bjp.183.5.409.
8
Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.腭心面综合征：理解精神分裂症遗传学和发病机制的模型。
Br J Psychiatry. 2001 Nov;179:397-402. doi: 10.1192/bjp.179.5.397.
9
Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.儿茶酚-O-甲基转移酶基因第108/158密码子多态性与腭心面综合征精神症状的关联
Am J Med Genet. 1996 Sep 20;67(5):468-72. doi: 10.1002/(SICI)1096-8628(19960920)67:5<468::AID-AJMG5>3.0.CO;2-G.
10
Velo-cardio-facial syndrome: a distinctive behavioral phenotype.
Ment Retard Dev Disabil Res Rev. 2000;6(2):142-7. doi: 10.1002/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H.
引用本文的文献
1
Nosology and Phenomenology of Psychosis in Movement Disorders.运动障碍性疾病中精神病的疾病分类学与现象学
Mov Disord Clin Pract. 2020 Jan 7;7(2):140-153. doi: 10.1002/mdc3.12882. eCollection 2020 Feb.
2
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.22q11.2 缺失综合征患者脑白质微观结构的改变：一项多中心弥散张量成像研究。
Mol Psychiatry. 2020 Nov;25(11):2818-2831. doi: 10.1038/s41380-019-0450-0. Epub 2019 Jul 29.
3
Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations.建模和预测与拷贝数变异相关的神经精神维度的发展轨迹。
Int J Neuropsychopharmacol. 2019 Aug 1;22(8):488-500. doi: 10.1093/ijnp/pyz026.
4
Recent Advances in the Genetics of Schizophrenia.精神分裂症遗传学的最新进展
Mol Neuropsychiatry. 2018 Jun;4(1):35-51. doi: 10.1159/000488679. Epub 2018 May 30.
5
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.用于研究精神分裂症谱系障碍的神经遗传学模型：国际 22q11.2 缺失综合征脑行为联盟。
Mol Psychiatry. 2017 Dec;22(12):1664-1672. doi: 10.1038/mp.2017.161. Epub 2017 Aug 1.
6
Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions.自闭症谱系障碍中的影像遗传学：进展、转化影响及未来方向。
Front Psychiatry. 2012 May 15;3:46. doi: 10.3389/fpsyt.2012.00046. eCollection 2012.
7
From murine to human nude/SCID: the thymus, T-cell development and the missing link.从鼠类到人类裸鼠/重症联合免疫缺陷小鼠：胸腺、T细胞发育及缺失环节
Clin Dev Immunol. 2012;2012:467101. doi: 10.1155/2012/467101. Epub 2012 Mar 5.
8
Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.22q11.2缺失综合征青少年使用选择性5-羟色胺再摄取抑制剂（SSRI）治疗后的焦虑症和知觉障碍：病例系列
J Can Acad Child Adolesc Psychiatry. 2011 Nov;20(4):305-10.
9
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.携带 velo-cardio-facial/DiGeorge/22q11.2 缺失综合征的一家系中存在遗传剂量补偿。
Am J Med Genet A. 2011 Mar;155A(3):548-54. doi: 10.1002/ajmg.a.33861. Epub 2011 Feb 18.
10
Disruption of the neurexin 1 gene is associated with schizophrenia.神经连接蛋白1基因的破坏与精神分裂症有关。
Hum Mol Genet. 2009 Mar 1;18(5):988-96. doi: 10.1093/hmg/ddn351. Epub 2008 Oct 22.
本文引用的文献
1
Velo-cardio-facial syndrome: a review of 120 patients.心脏-颜面综合征：120例患者的综述
Am J Med Genet. 1993 Feb 1;45(3):313-9. doi: 10.1002/ajmg.1320450307.
2
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.证实腭心面综合征与22q11染色体上基因的单倍剂量不足有关。
Am J Med Genet. 1993 Feb 1;45(3):308-12. doi: 10.1002/ajmg.1320450306.
3
Recent advances in the neuropathology of schizophrenia.精神分裂症神经病理学的最新进展
Schizophr Bull. 1993;19(2):431-45. doi: 10.1093/schbul/19.2.431.
4
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.DiGeorge综合征和腭心面综合征中22q11微缺失的患病率：对遗传咨询和产前诊断的意义。
J Med Genet. 1993 Oct;30(10):813-7. doi: 10.1136/jmg.30.10.813.
5
The velo-cardio-facial syndrome: a clinical and genetic analysis.腭心面综合征：一项临床与遗传学分析。
Pediatrics. 1981 Feb;67(2):167-72.
6
Craniofacial morphology in the velo-cardio-facial syndrome.腭心面综合征的颅面形态学
J Craniofac Genet Dev Biol. 1984;4(1):39-45.
7
Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism.右侧主动脉弓、智力缺陷和面部畸形的家族综合征。
J Pediatr. 1968 Dec;73(6):882-8. doi: 10.1016/s0022-3476(68)80241-0.
8
Velo-cardio-facial syndrome: language and psychological profiles.心脏颜面综合征：语言和心理特征
J Craniofac Genet Dev Biol. 1985;5(3):259-66.
9
Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.腭心面综合征的男性间传播：一例病例报告及60例病例回顾
J Craniofac Genet Dev Biol. 1985;5(2):175-80.
10
Velo-cardio-facial syndrome presenting as holoprosencephaly.
Clin Genet. 1985 Apr;27(4):408-10. doi: 10.1111/j.1399-0004.1985.tb02284.x.
Zotero 插件