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Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy.

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Department of Neurology, Shijiazhuang People’s Hospital, Shijiazhuang, China

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关键词： Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) pigmented orthochromatic leukodystrophy (POLD) hereditary diffuse leukoencephalopathy with spheroid (HDLS) colony-stimulating factor 1 receptor (CSF1R) novel mutation mutational hotspot

摘要：

CSF1R-related encephalopathy refers to adult-onset leukodystrophy with neuroaxonal spheroids and pigmented glia (ALSP) due to CSF1R mutations, which is a rare autosomal dominant white matter disease including two pathological entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). The aim of this study was to identify additional causative mutations in the CSF1R gene and clarify their pathogenic effects.Whole-exome sequencing was conducted for nine Chinese patients diagnosed with possible ALSP based on clinical and neuroimaging findings from March 2014 to June 2020 at Xuanwu Hospital (Beijing, China). Variant pathogenicity was assessed according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP) Standards and Guidelines.Mean ± standard deviation (range) age of disease onset in the nine patients was 39.22±9.63 [25-54] years. Four of the nine patients were male, and four out of nine had a remarkable family history. Seven CSF1R mutations were identified in the nine patients; four (p.G17C, p.R579Q, p.I794T and c.2909_2910insATCA) have been previously reported, while three (p.V613L, p.W821R and c.2442+2_2442+3dupT) were novel. Of the latter, two (p.V613L and p.W821R) were likely pathogenic and 1 (c.2442+2_2442+3dupT) was of uncertain significance according to ACMG/AMP criteria.These findings expand the mutational spectrum of ALSP and provide a basis for future investigations on etiologic factors and potential management strategies for this disease.2021 Annals of Translational Medicine. All rights reserved.

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出版当年[2020]版中科院分区表Review为是的期刊

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大类 | 3 区医学

小类 | 3 区医学：研究与实验 3 区肿瘤学

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Q2 ONCOLOGY Q2 MEDICINE, RESEARCH & EXPERIMENTAL

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影响因子： 0 最新[2023版] 0 最新五年平均 3.297 出版当年[2019版] 0 出版当年五年平均 3.689 出版前一年[2018版] 3.932 出版后一年[2020版]

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第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

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通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

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