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Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

作者信息

Hadjigeorgiou G M, Comi G P, Bordoni A, Shen J, Chen Y T, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia M G, Franceschina L, Papadimitriou A, Scarlato G

机构信息

Centro Dino Ferrari, Università degli Studi di Milano, Italy.

出版信息

J Inherit Metab Dis. 1999 Aug;22(6):762-3. doi: 10.1023/a:1005572906807.

DOI:10.1023/a:1005572906807
PMID:10472540
Abstract
摘要

相似文献

1
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.糖原贮积病Ⅲa型中AGL基因新的供体剪接位点突变
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2
Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.在一名日本IIIa型糖原贮积病患者的脱支酶基因中鉴定出一个5'剪接连接突变。
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A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
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4
[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):502-5. doi: 10.3760/cma.j.issn.1003-9406.2015.04.011.
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A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.一名糖原贮积病IIIb型纯合患者的糖原脱支酶基因第32内含子（IVS32 A-12→G）受体剪接位点存在一种新的点突变，但外显子3未发生突变。
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6
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.糖原脱支酶基因中的一种新型供体剪接位点突变与III型糖原贮积病相关。
Biochem Biophys Res Commun. 1996 Aug 14;225(2):695. doi: 10.1006/bbrc.1996.1235.
7
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.III型糖原贮积病复合杂合子患者：鉴定出两个新的AGL突变，一个源自中国的供体剪接位点突变和一个源自日本的1个碱基对缺失。
Am J Med Genet. 2000 Jul 31;93(3):211-4. doi: 10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z.
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Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.III型糖原贮积病中两种常见突变的基因型-表型相关性及突变更新
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Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.土耳其 23 例糖原贮积病 III 型患者的分子特征：与孤立性葡萄糖苷酶缺乏症相关的新型突变 p.R1147G，以及 9 种 AGL 突变。
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Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.糖原脱支酶基因的异质性突变是日本IIIa型糖原贮积病的病因。
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引用本文的文献

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Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11.
2
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.内含子保留是在马来西亚III型糖原贮积病（GSD III）患者中鉴定出的六个未报告的AGL基因突变之一。
Genes Genomics. 2019 Aug;41(8):885-893. doi: 10.1007/s13258-019-00815-9. Epub 2019 Apr 26.
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Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

本文引用的文献

1
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.人类糖原脱支酶基因（AGL）：5'侧翼区域的完整结构组织与特征分析
Genomics. 1996 Dec 1;38(2):155-65. doi: 10.1006/geno.1996.0611.
2
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.糖原脱支酶基因第3外显子的突变与III型糖原贮积病相关，该病在肝脏和肌肉中存在差异表达。
J Clin Invest. 1996 Jul 15;98(2):352-7. doi: 10.1172/JCI118799.
基于捕获的高覆盖度下一代测序技术：一种揭示广泛突变类型的强大工具。
Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24.
4
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.一个新型糖原贮积病 III 型突变为一个突尼斯家族的分子和生化特征
Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8.
5
SINE indel polymorphism of AGL gene and association with growth and carcass traits in Landrace x Jeju Black pig F(2) population.AGL基因的SINE插入/缺失多态性及其与长白猪×济州黑猪F2代群体生长和胴体性状的关联
Mol Biol Rep. 2010 Jan;37(1):467-71. doi: 10.1007/s11033-009-9644-x. Epub 2009 Aug 1.
6
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.糖原脱支酶缺乏症的临床、生化及遗传学特征
Acta Myol. 2007 Jul;26(1):72-4.
7
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.AGL基因的分子分析：来自德国、加拿大、阿富汗、伊朗和土耳其的III型糖原贮积病患者的突变异质性。
J Hum Genet. 2006;51(11):958-963. doi: 10.1007/s10038-006-0045-x. Epub 2006 Sep 19.