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A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

作者信息

Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R

机构信息

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Genova, Italy.

出版信息

Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x.

DOI:10.1111/j.1399-0004.1998.tb02598.x
PMID:9712538
Abstract

A large deletion in the iduronate-2-sulfatase (IDS) gene has been found in a patient affected by an intermediate form of Hunter syndrome (mucopolysaccharidosis II). The deletion involves exons 2-4, the breakpoints lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 junction due to the deletion resulting in a frameshift mutation.

摘要

相似文献

1
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x.
2
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.一名亨特综合征患者中艾杜糖醛酸-2-硫酸酯酶基因的38.8 kb缺失突变
J Formos Med Assoc. 2005 Apr;104(4):273-5.
3
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.
Hum Mutat. 2000;15(4):324-31. doi: 10.1002/(SICI)1098-1004(200004)15:4<324::AID-HUMU4>3.0.CO;2-5.
4
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.
Hum Mutat. 1999;14(6):471-6. doi: 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5.
5
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).II型黏多糖贮积症（亨特综合征）患者艾杜糖醛酸-2-硫酸酯酶基因突变分析
Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335.
6
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).12例波兰黏多糖贮积症II型（亨特综合征）患者的艾杜糖醛酸-2-硫酸酯酶基因突变
Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114.
7
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.局限于艾杜糖醛酸-2-硫酸酯酶启动子的DNA缺失消除了IDS基因的表达。
Hum Mutat. 1998;11(2):121-6. doi: 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M.
8
Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.人艾杜糖醛酸-2-硫酸酯酶（IDS）基因一种可变转录本的鉴定。
Genomics. 1995 Sep 1;29(1):291-3. doi: 10.1006/geno.1995.1249.
9
An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease.在一例亨特病患者中，艾杜糖醛酸-2-硫酸酯酶基因外显子B出现一个8碱基对的缺失。
Hum Mol Genet. 1993 Jul;2(7):1063-5. doi: 10.1093/hmg/2.7.1063.
10
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871.

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Biomedicines. 2022 Jul 29;10(8):1836. doi: 10.3390/biomedicines10081836.
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Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.罗马尼亚II型黏多糖贮积症患者的临床和遗传特征
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Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
J Mol Med (Berl). 2006 Aug;84(8):692-700. doi: 10.1007/s00109-006-0057-1. Epub 2006 May 13.
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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.一种由Alu介导的重排作为亨特氏病外显子跳跃的原因。
Hum Genet. 2003 Apr;112(4):419-25. doi: 10.1007/s00439-002-0900-6. Epub 2003 Feb 11.