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A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.

作者信息

Jia Weimin, Luo Yalin, Zhang Tengfei, Yang Ying, Zhang Xianqin

机构信息

Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, Hubei, China.

Department of Children's Genetics Metabolic Endocrine Division, Guiyang Maternal and Child Health Care Hospital, Guiyang, 550003, Guizhou, China.

出版信息

Neurol Sci. 2023 Jul;44(7):2605-2608. doi: 10.1007/s10072-023-06748-2. Epub 2023 Mar 15.

DOI:10.1007/s10072-023-06748-2
PMID:36920572
Abstract
摘要

相似文献

1
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.GALC基因中的一种新突变导致一个近亲家庭中出现伴有广泛蒙古斑的克拉伯病。
Neurol Sci. 2023 Jul;44(7):2605-2608. doi: 10.1007/s10072-023-06748-2. Epub 2023 Mar 15.
2
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.GALC突变体的转运和加工改变与球形细胞脑白质营养不良的严重程度相关。
J Neurosci. 2016 Feb 10;36(6):1858-70. doi: 10.1523/JNEUROSCI.3095-15.2016.
3
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.一个新的半乳糖脑苷脂酶变异与一个近亲结婚家庭的克雅氏病相关。
Neurol Sci. 2018 Dec;39(12):2123-2128. doi: 10.1007/s10072-018-3556-2. Epub 2018 Sep 12.
4
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves.一名患有克拉伯病的婴儿出现伴有视神经肿大的新突变。
Acta Neurol Belg. 2017 Mar;117(1):319-321. doi: 10.1007/s13760-016-0637-y. Epub 2016 Apr 4.
5
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.一种新的 GALC 基因突变：极早发病且快速进展的克雅氏病。
Gene. 2013 Mar 15;517(1):125-7. doi: 10.1016/j.gene.2012.12.040. Epub 2012 Dec 28.
6
Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.成人发病型克拉伯病：一例在近亲家族中由于半乳糖脑苷脂酶基因突变导致的 MRI 无异常信号的病例报告
Mol Genet Genomic Med. 2020 Sep;8(9):e1407. doi: 10.1002/mgg3.1407. Epub 2020 Jul 17.
7
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.通过多点连锁分析将克拉伯病基因（GALC）定位到14号染色体上。
Am J Hum Genet. 1993 Dec;53(6):1250-5.
8
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.成人型球状细胞脑白质营养不良（克拉伯病）：对4例日本患者的半乳糖神经酰胺酶cDNA的分析
Hum Genet. 1997 Sep;100(3-4):450-6. doi: 10.1007/s004390050532.
9
[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy].[以周围神经病变为表现的克拉伯病患者的临床及遗传学分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):821-825. doi: 10.3760/cma.j.issn.1003-9406.2019.08.017.
10
A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease.用于监测家族 GH59 半乳糖脑苷脂酶（Krabbe 病中缺乏的酶）的特异性基于活性的探针。
Chembiochem. 2017 Feb 16;18(4):402-412. doi: 10.1002/cbic.201600561. Epub 2017 Jan 31.

本文引用的文献

1
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction.表达 GALC 的巨噬细胞通过与交叉校正无关的机制改善外周 Krabbe 病。
Neuron. 2020 Jul 8;107(1):65-81.e9. doi: 10.1016/j.neuron.2020.03.031. Epub 2020 May 5.
2
SnapShot: Lysosomal Storage Diseases.快照：溶酶体贮积症。
Cell. 2020 Feb 6;180(3):602-602.e1. doi: 10.1016/j.cell.2020.01.017.
3
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report.GALC 突变与中国晚发型克拉伯病患者：病例报告。
BMC Neurol. 2019 Jun 11;19(1):122. doi: 10.1186/s12883-019-1345-z.
4
Revisiting the history of the "Mongolian spot": The background and implications of a medical term used today.重温“蒙古斑”的历史：当今一个医学术语的背景及影响。
Pediatr Dermatol. 2019 Sep;36(5):755-757. doi: 10.1111/pde.13858. Epub 2019 May 29.
5
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.248 例克拉伯病患者的临床特征：基于已发表病例的定量自然史建模。
Genet Med. 2019 Oct;21(10):2208-2215. doi: 10.1038/s41436-019-0480-7. Epub 2019 Mar 22.
6
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.克-雅氏病不同变异型疾病发病机制的分子机制有所不同。
Traffic. 2016 Aug;17(8):908-22. doi: 10.1111/tra.12404. Epub 2016 May 30.
7
Extensive Mongolian Spots and Lysosomal Storage Diseases.广泛的蒙古斑与溶酶体贮积病
J Pediatr. 2016 Mar;170:333-e1. doi: 10.1016/j.jpeds.2015.11.009. Epub 2015 Dec 15.
8
History, genetic, and recent advances on Krabbe disease.克拉贝病的历史、遗传学及近期进展
Gene. 2015 Jan 15;555(1):2-13. doi: 10.1016/j.gene.2014.09.046. Epub 2014 Sep 26.
9
Mongolian spots: How important are they?蒙古斑：它们有多重要？
World J Clin Cases. 2013 Nov 16;1(8):230-2. doi: 10.12998/wjcc.v1.i8.230.
10
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.一种新的 GALC 基因突变：极早发病且快速进展的克雅氏病。
Gene. 2013 Mar 15;517(1):125-7. doi: 10.1016/j.gene.2012.12.040. Epub 2012 Dec 28.