Insights From Genetic Studies of Cerebral Palsy.
Insights From Genetic Studies of Cerebral Palsy.
复制标题
脑瘫遗传研究的见解。
DOI：
10.3389/fneur.2020.625428
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发表时间：
2020
影响因子：
3.4
通讯作者：
Kruer MC
中科院分区：
文献类型：
--
作者：
Lewis SA;Shetty S;Wilson BA;Huang AJ;Jin SC;Smithers-Sheedy H;Fahey MC;Kruer MC
基于队列的全外显子组和全基因组测序和拷贝数变异（CNV）研究已经确定了相当大比例的脑瘫（CP）患者的遗传病因。这些发现表明，基因突变共同构成了CP的重要原因。本文综述了CP基因组学的研究成果，并从基因发现、研究和临床应用的角度提出了CP相关基因的标准。我们回顾了已发表的文献，并报告了来自基因组学研究的18个基因和5个CNV，这些基因和CNV为CP的病理生理学提供了强有力的证据。CP相关基因通常会破坏早期大脑发育程序或使个体易受已知环境风险因素的影响。我们讨论了CP相关基因与其他神经发育障碍和相关运动障碍的重叠。我们重新审视CP的诊断标准，并讨论如何识别遗传病因并不排除CP作为一个适当的诊断。遗传病因的确定提高了我们对CP神经生物学的理解，为研究CP发病机制和制定基于机制的干预措施提供了机会。
Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP. We review findings in CP genomics and propose criteria for CP-associated genes at the level of gene discovery, research study, and clinical application. We review the published literature and report 18 genes and 5 CNVs from genomics studies with strong evidence of for the pathophysiology of CP. CP-associated genes often disrupt early brain developmental programming or predispose individuals to known environmental risk factors. We discuss the overlap of CP-associated genes with other neurodevelopmental disorders and related movement disorders. We revisit diagnostic criteria for CP and discuss how identification of genetic etiologies does not preclude CP as an appropriate diagnosis. The identification of genetic etiologies improves our understanding of the neurobiology of CP, providing opportunities to study CP pathogenesis and develop mechanism-based interventions.
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影响因子：
--
作者：
Jameel M;Klar J;Tariq M;Moawia A;Altaf Malik N;Seema Waseem S;Abdullah U;Naeem Khan T;Raininko R;Baig SM;Dahl N
通讯作者：
Dahl N
影响因子：
2
作者：
Clark EAS;Weiner SJ;Rouse DJ;Mercer BM;Reddy UM;Iams JD;Wapner RJ;Sorokin Y;Malone FD;O'Sullivan MJ;Peaceman AM;Hankins GDV;Dudley DJ;Caritis SN;Eunice Kennedy Shriver National Institute of Child Health Human Development Maternal-Fetal Medicine Units (MFMU) Network
通讯作者：
Eunice Kennedy Shriver National Institute of Child Health Human Development Maternal-Fetal Medicine Units (MFMU) Network
影响因子：
6.1
作者：
Aravamuthan, Bhooma R.;Gandham, Sushma;Young, Anne B.;Rutkove, Seward B.
通讯作者：
Rutkove, Seward B.
影响因子：
9.9
作者：
Brueggemann, Norbert;Kuehn, Andrea;Klein, Christine
通讯作者：
Klein, Christine
影响因子：
6.3
作者：
Kontoangelos, Konstantinos;Maillis, Antonis;Papageorgiou, Charalambos C.
通讯作者：
Papageorgiou, Charalambos C.