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A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.

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机构： [a]Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China [b]Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China [c]Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, China

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关键词： Autosomal recessive early-onset Parkinson’s disease PARK15 Chinese Mutation FBXO7 Whole-exome sequencing

摘要：

Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation.Clinical data of the proband and his affected sister manifesting as early-onset parkinsonism combined with pyramidal signs were collected. DNAs of the two affected siblings, an unaffected sibling and their unaffected mother were isolated. Whole-exome sequencing (WES) was performed for the proband. After bioinformatic analysis, targeted variants were validated by Sanger sequencing in the family members available for DNAs.The proband began to walk unsteadily at 30-year-old and developed mild parkinsonism and stiffness in both lower extremities 4 years later. His older sister also manifested as early-onset parkinsonism with stiffness in both lower limbs and postural instability. Both the proband and his older sister carried a novel homozygous FBXO7 mutation in exon 7 (c.1034G > C, p. R345P). The homozygous mutation co-segregated with disease in this pedigree. The mutation located at a highly conserved amino acid residue in the F-box domain, which was predicted to be damaging in silico.Our study expands the mutational spectrum of autosomal recessive early-onset Parkinson's disease (PARK15) caused by FBXO7 mutations.Copyright © 2021 Elsevier Ltd. All rights reserved.

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出版当年[2020]版：

大类 | 2 区医学

小类 | 2 区临床神经病学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学

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出版当年[2019]版：

Q1 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY

影响因子： 3.1 最新[2023版] 3.8 最新五年平均 3.926 出版当年[2019版] 4.569 出版当年五年平均 4.36 出版前一年[2018版] 4.891 出版后一年[2020版]

第一作者：

第一作者机构： [a]Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China

通讯作者：

通讯机构： [a]Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China [*1]Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, #45 Changchun Road, Beijing, 100053, China.

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