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BMC medical genetics 染色质重塑功能障碍扩展精神分裂症的病因谱: 病例报告。

影响因子：2.023 DOI：10.1186/s12881-019-0946-0

作者： Poisson A,Chatron N,Labalme A,Fourneret P,Ville D,Mathieu ML,Sanlaville D,Demily C,Lesca G 发表时间：2020-02-03 03:28:46

from：《BMC Medical Genetics》

keywords： Poisson AChatron NLabalme AFourneret PVille DMathieu MLSanlaville DDemily CLesca G

关键词： CHD2 儿童期发病的精神分裂症染色质色域解旋酶DNA结合遗传咨询精神分裂症

Abstract

BACKGROUND: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: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 hallucinations. The diagnosis of childhood onset schizophrenia (DSM V) was then evoked. Brain imaging was unremarkable. Wakefulness electroencephalography showed a normal background and some bilateral spike-wave discharges that did not explain the psychosis features. A comparative genomic hybridization array (180 K, Agilent, Santa Clara, CA, USA) revealed an 867-kb 16p13.3 duplication, interpreted as a variant of unknown significance confirmed by a quantitative PCR that also showed its maternal inheritance. Risperidone (1,5 mg per day), led to clinical improvement. At the age of 11, an explosive relapse of epilepsy occurred with daily seizures of various types. The sequencing of a panel for monogenic epileptic disorders and Sanger sequencing revealed a de novo pathogenic heterozygous transition in CHD2 (NM_001271.3: c.4003G > T). CONCLUSIONS:This case underlines that schizophrenia may be, sometimes, underpinned by a Mendelian disease. It addresses the question of systematic genetic investigations in the presence of warning signs such as a childhood onset of the schizophrenia or a resistant epilepsy. It points that, in the absence of pathogenic copy number variation, the investigations should also include a search for pathogenic variations, which means that some of the patients with schizophrenia should benefit from Next Generation Sequencing tools. Last but not least, CHD2 encodes a member of the chromodomain helicase DNA-binding (CHD) family involved in chromatin remodeling. This observation adds schizophrenia to the phenotypic spectrum of chromodomain remodeling disorders, which may lead to innovative therapeutic approaches.

摘要

背景: 有害拷贝数变异在精神分裂症中的作用已经确定，而关于致病变异的数据仍然很少。我们首次报道了一例色域解旋酶 DNA 结合蛋白 2 (CHD2) 基因致病性突变的儿童精神分裂症病例。病例介绍: 先证者是无血缘关系父母的第二胎。10 月龄时出现焦虑和睡眠障碍。他表现为热性惊厥，8 岁时出现两次全身性强直阵挛发作。10 岁时，情绪退缩出现，伴随着平淡的情感、混乱和偏执，没有癫痫发作。他开始自我交谈和傻笑。最终，患者出现每日听觉和视觉幻觉。然后诱发儿童期发病的精神分裂症 (DSM V) 的诊断。脑成像并不显著。觉醒脑电图显示背景正常，一些双侧棘波放电不能解释精神病特征。比较基因组杂交阵列 (180 k，Agilent，Santa Clara，CA，USA) 揭示了 867 kb 16p13。3 重复，解释为通过定量 PCR 证实的意义未知的变异，也显示其母系遗传。利培酮 (每天 1,5 毫克)，导致临床改善。11 岁时，癫痫发生爆发性复发，每日发作各种类型。单基因癫痫疾病组测序和 Sanger 测序揭示了 CHD2 (NM_001271.3: c.4003G> t) 的新生致病性杂合转变。结论: 该病例强调精神分裂症有时可能是孟德尔疾病的基础。它解决了在出现精神分裂症或难治性癫痫的儿童期发病等警告信号的情况下进行系统遗传调查的问题。它指出，在没有致病性拷贝数变异的情况下，调查还应包括寻找致病性变异,这意味着一些精神分裂症患者应该受益于下一代测序工具。最后但并非最不重要的是，CHD2 编码参与染色质重塑的色域解旋酶 DNA 结合 (CHD) 家族的成员。这一观察结果将精神分裂症添加到色域重塑障碍的表型谱中，这可能导致创新的治疗方法。

期刊介绍

《BMC Medical Genetics》 (点击进入期刊详情)

英文简介 : BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

中文简介 : （来自Google、百度翻译） BMC医学遗传学是一份开放获取的期刊，发表原创的同行评审的研究文章，研究个体、家庭和人群之间的遗传变异对人类健康和疾病的影响。

CIRCULATION RESEARCH 期刊中科院评价数据

新中科院分区

大类(学科)	小类(学科)	学科排名
生物	GENETICS & HEREDITY (遗传学)	119/171

新发布的期刊年发文量

年度总发文量	年度论文发表量	年度综述发表量
149	140	9

总被引频次 :2951

特征因子 : 0.005300

影响因子趋势图

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