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A case of early-onset Parkinson's disease in a patient with KBG syndrome.

作者信息

Magistrelli Luca, Contaldi Elena, Caushi Fjorilda, Spano Alice, Cantello Roberto, D'Alfonso Sandra, Corrado Lucia

机构信息

Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.

PhD Program in Medical Sciences and Biotechnology, University of Piemonte Orientale, 28100, Novara, Italy.

出版信息

Neurol Sci. 2023 Dec;44(12):4537-4539. doi: 10.1007/s10072-023-06988-2. Epub 2023 Aug 4.

DOI:10.1007/s10072-023-06988-2
PMID:37540342
Abstract
摘要

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[The first Danish patient with a recognisable genetic KBG syndrome].[首例患有可识别的遗传性KBG综合征的丹麦患者]
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引用本文的文献

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Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.一例患有KBG综合征儿童的阵发性肌张力障碍病例报告：表型扩展及全外显子测序的应用
Medicine (Baltimore). 2025 Aug 1;104(31):e43631. doi: 10.1097/MD.0000000000043631.
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Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the Gene and KBG Syndrome.一名患有该基因新发移码变异及KBG综合征患者的早发性帕金森病
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Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

本文引用的文献

1
ANKRD11 variants: KBG syndrome and beyond.ANKRD11 变异：KBG 综合征及其他。
Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14.
2
ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway.ANKRD11 与智力障碍和自闭症有关，通过 BDNF/TrkB 信号通路调节树突分化。
Neurobiol Dis. 2018 Mar;111:138-152. doi: 10.1016/j.nbd.2017.12.008. Epub 2017 Dec 21.
3
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
通过文献回顾和 ClinVar 数据库搜索深入了解ANKRD11 变体与身材矮小表型。
Orphanet J Rare Dis. 2024 Aug 12;19(1):292. doi: 10.1186/s13023-024-03301-y.
39例由ANKRD11缺失或突变引起的KBG综合征患者的临床和分子学发现
Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
5
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.ANKRD11 是一种与自闭症相关的染色质调节因子，对神经发育至关重要。
Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31.
6
BDNF is a neurotrophic factor for dopaminergic neurons of the substantia nigra.脑源性神经营养因子是黑质多巴胺能神经元的一种神经营养因子。
Nature. 1991 Mar 21;350(6315):230-2. doi: 10.1038/350230a0.