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Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.

作者信息

Kim Hwa Young, Kim Man Jin, Seong Moon-Woo, Ko Jung Min

机构信息

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2022 May 1;42(3):373-375. doi: 10.3343/alm.2022.42.3.373.

DOI:10.3343/alm.2022.42.3.373
PMID:34907110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8677480/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7368/8677480/88c7e60e1072/alm-42-3-373-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7368/8677480/88c7e60e1072/alm-42-3-373-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7368/8677480/88c7e60e1072/alm-42-3-373-f1.jpg

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本文引用的文献

1
Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.亨特综合征女性患者酶替代治疗的免疫调节。
Front Immunol. 2020 May 21;11:1000. doi: 10.3389/fimmu.2020.01000. eCollection 2020.
2
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.黏多糖贮积症 II 型：百年的研究、诊断和治疗。
Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258.
3
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).II型粘多糖贮积症（MPS II；亨特综合征）的临床表现与治疗方法。
Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.
4
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.一名携带艾杜糖醛酸-2-硫酸酯酶基因杂合性终止突变且X染色体失活偏向的女性患有II型黏多糖贮积症。
Eur J Med Genet. 2013 Mar;56(3):159-62. doi: 10.1016/j.ejmg.2012.11.006. Epub 2012 Dec 8.
5
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.黏多糖贮积症 II 型在女性中的表现和酶替代治疗的反应。
Am J Med Genet A. 2012 Feb;158A(2):450-4. doi: 10.1002/ajmg.a.34415. Epub 2012 Jan 13.
6
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.鉴定 49 例韩国黏多糖贮积症 II 型患者中的 11 种新突变。
Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24.
7
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.黏多糖贮积症 II 型 p.R443X 突变的母女：基因型和表型分析。
Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589.
8
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.伊杜硫酸酶治疗 11 岁亨特综合征女孩：脑磁共振成像特征与演变。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S67-72. doi: 10.1007/s10545-009-9023-8. Epub 2010 Jan 6.
9
Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.双链断裂可能引发导致亨特综合征的倒位突变。
Hum Mol Genet. 1997 Apr;6(4):627-33. doi: 10.1093/hmg/6.4.627.
10
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Am J Hum Genet. 1992 Dec;51(6):1229-39.