PDF(Pubmed)
Abstract：
UNASSIGNED: Chromosome microarray analysis (CMA) can detect copy number variants (CNV) beyond the resolution of standard G-banded karyotyping. De novo or inherited microdeletions may cause autosomal dominant movement disorders.
UNASSIGNED: The purpose of this study was to analyze the clinical characteristics, associated features, and genetic information of children with deletions in known genes that cause movement disorders and to make recommendations regarding the diagnostic application of CMA.
UNASSIGNED: Clinical cases published in English were identified in scientific databases (PubMed, ClinVar, and DECIPHER) from January 1998 to July 2019 following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Cases with deletions or microdeletions greater than 300 kb were selected. Information collected included age, sex, movement disorders, associated features, and the size and location of the deletion. Duplications or microduplications were not included.
UNASSIGNED: A total of 18.097 records were reviewed, and 171 individuals were identified. Ataxia (30.4%), stereotypies (23.9%), and dystonia (21%) were the most common movement disorders. A total of 16% of the patients demonstrated more than one movement disorder. The most common associated features were intellectual disability or developmental delay (78.9%) and facial dysmorphism (57.8%). The majority (77.7%) of microdeletions were smaller than 5 Mb. We find no correlation between movement disorders, their associated features, and the size of microdeletions.
UNASSIGNED: Our results support the use of CMA as an investigational test in children with movement disorders. As the majority of identified articles were case reports and small case series (low quality), future efforts should focus on larger prospective studies to examine the causation of microdeletions in pediatric movement disorders.
UNASSIGNED: The purpose of this study was to analyze the clinical characteristics, associated features, and genetic information of children with deletions in known genes that cause movement disorders and to make recommendations regarding the diagnostic application of CMA.
UNASSIGNED: Clinical cases published in English were identified in scientific databases (PubMed, ClinVar, and DECIPHER) from January 1998 to July 2019 following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Cases with deletions or microdeletions greater than 300 kb were selected. Information collected included age, sex, movement disorders, associated features, and the size and location of the deletion. Duplications or microduplications were not included.
UNASSIGNED: A total of 18.097 records were reviewed, and 171 individuals were identified. Ataxia (30.4%), stereotypies (23.9%), and dystonia (21%) were the most common movement disorders. A total of 16% of the patients demonstrated more than one movement disorder. The most common associated features were intellectual disability or developmental delay (78.9%) and facial dysmorphism (57.8%). The majority (77.7%) of microdeletions were smaller than 5 Mb. We find no correlation between movement disorders, their associated features, and the size of microdeletions.
UNASSIGNED: Our results support the use of CMA as an investigational test in children with movement disorders. As the majority of identified articles were case reports and small case series (low quality), future efforts should focus on larger prospective studies to examine the causation of microdeletions in pediatric movement disorders.
摘要：
■染色体微阵列分析（CMA）可以检测超出标准G带核型分析分辨率的拷贝数变体（CNV）。从头或遗传性微缺失可能导致常染色体显性运动障碍。
■本研究的目的是分析临床特征，关联特征,以及导致运动障碍的已知基因缺失的儿童的遗传信息，并就CMA的诊断应用提出建议。
■在科学数据库中确定了以英文发表的临床病例(PubMed，ClinVar,和DECIPHER）从1998年1月至2019年7月遵循系统审查和荟萃分析指南的首选报告项目。选择缺失或微缺失大于300kb的病例。收集的信息包括年龄，性别,运动障碍,关联特征,以及删除的大小和位置。不包括重复或微重复。
■共审查了18.097条记录，并确定了171个人。共济失调（30.4%），陈规定型观念(23.9%)，肌张力障碍(21%)是最常见的运动障碍。共有16％的患者表现出一种以上的运动障碍。最常见的相关特征是智力障碍或发育迟缓（78.9％）和面部畸形（57.8％）。大多数(77.7%)的微缺失小于5Mb。我们发现运动障碍之间没有相关性，它们的相关特征，以及微缺失的大小。
■我们的结果支持使用CMA作为运动障碍儿童的研究性测试。由于大多数确定的文章是病例报告和小病例系列(低质量)，未来的工作应集中在更大的前瞻性研究上,以检查小儿运动障碍中微缺失的原因.
■本研究的目的是分析临床特征，关联特征,以及导致运动障碍的已知基因缺失的儿童的遗传信息，并就CMA的诊断应用提出建议。
■在科学数据库中确定了以英文发表的临床病例(PubMed，ClinVar,和DECIPHER）从1998年1月至2019年7月遵循系统审查和荟萃分析指南的首选报告项目。选择缺失或微缺失大于300kb的病例。收集的信息包括年龄，性别,运动障碍,关联特征,以及删除的大小和位置。不包括重复或微重复。
■共审查了18.097条记录，并确定了171个人。共济失调（30.4%），陈规定型观念(23.9%)，肌张力障碍(21%)是最常见的运动障碍。共有16％的患者表现出一种以上的运动障碍。最常见的相关特征是智力障碍或发育迟缓（78.9％）和面部畸形（57.8％）。大多数(77.7%)的微缺失小于5Mb。我们发现运动障碍之间没有相关性，它们的相关特征，以及微缺失的大小。
■我们的结果支持使用CMA作为运动障碍儿童的研究性测试。由于大多数确定的文章是病例报告和小病例系列(低质量)，未来的工作应集中在更大的前瞻性研究上,以检查小儿运动障碍中微缺失的原因.
