DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.
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DOI：
10.1002/humu.24398
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发表时间：
2022-09
期刊：
影响因子：
3.9
通讯作者：
Alexander, Matthew S.
中科院分区：
文献类型：
--
作者：
Samani, Adrienne;English, Katherine G.;Lopez, Michael A.;Birch, Camille L.;Brown, Donna M.;Kaur, Gurpreet;Worthey, Elizabeth A.;Alexander, Matthew S.
DOCK家族（DOCK1-11）基因是多种细胞类型和组织中细胞迁移、生长和融合的重要介质。对未确诊遗传疾病患者的全基因组测序（WGS）的最新进展已经确定了几种罕见的DOCK基因致病性变异。我们对已报道的与临床病理（如整体发育迟缓、免疫细胞功能障碍、肌肉张力降低和肌肉共济失调等）相关的DOCK致病变异进行了系统回顾、患者数据库和文献检索。然后，我们将这些致病性DOCK变异及其相关的临床表型分为几个独特的类别：发育、心血管、代谢、认知或神经肌肉。我们对DOCK变异的系统回顾旨在识别和分析与神经肌肉疾病和其他疾病病理相关的潜在DOCK调节网络，从而可能确定新的治疗策略和靶点。对DOCK致病变异的人类相关病理的系统分析和分类是我们所知的第一份关于这一未被充分研究的基因家族的独特类别的报告，这对进一步个性化基因组医学、临床诊断和改善许多临床病理的靶向治疗结果具有重要意义。
The Dedicator of Cytokinesis (DOCK) family (DOCK1–11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues. Recent advances in whole genome sequencing (WGS) of patients with undiagnosed genetic disorders have identified several rare pathogenic variants in DOCK genes. We conducted a systematic review and performed a patient database and literature search of reported DOCK pathogenic variants that have been identified in association with clinical pathologies such as global developmental delay, immune cell dysfunction, muscle hypotonia, and muscle ataxia among other categories. We then categorized these pathogenic DOCK variants and their associated clinical phenotypes under several unique categories: developmental, cardiovascular, metabolic, cognitive, or neuromuscular. Our systematic review of DOCK variants aims to identify and analyze potential DOCK-regulated networks associated with neuromuscular diseases and other disease pathologies, which may identify novel therapeutic strategies and targets. This systematic analysis and categorization of human associated pathologies with DOCK pathogenic variants is the first report to the best of our knowledge for a unique class in this understudied gene family that has important implications in furthering personalized genomic medicine, clinical diagnoses, and improve targeted therapeutic outcomes across many clinical pathologies.
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DOI：
10.1056/nejmoa1413462
发表时间：
2015-06-18
期刊：
The New England journal of medicine
影响因子：
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DOI：
10.1523/jneurosci.3985-08.2009
发表时间：
2009-01-07
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
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作者：
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通讯作者：
Schubert D
影响因子：
10.5
作者：
Laurin M;Côté JF
通讯作者：
Côté JF
影响因子：
5.6
作者：
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通讯作者：
Consalvi V
DOI：
10.1016/j.jaci.2014.12.1945
发表时间：
2015-08
期刊：
The Journal of allergy and clinical immunology
影响因子：
--
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Grimbacher B