A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome. - Suppr | 超能文献

A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.

作者信息

Guo Yi-bin, Pan Jing-xin, Meng Ya-xian

机构信息

Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510080, China.

出版信息

J Zhejiang Univ Sci B. 2007 Aug;8(8):566-9. doi: 10.1631/jzus.2007.B0566.

DOI:10.1631/jzus.2007.B0566

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1934951/

Abstract

OBJECTIVE

To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome.

METHODS

Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents.

RESULTS

The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal.

CONCLUSION

The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.

摘要

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本文引用的文献

1

[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].

Yi Chuan. 2007 Jan;29(1):37-40. doi: 10.1360/yc-007-0037.

2

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.

J Inherit Metab Dis. 2006 Dec;29(6):743-54. doi: 10.1007/s10545-006-0403-z. Epub 2006 Oct 25.

3

[Detection of a new mutation (T1140C)in a Chinese Guangdong patient with hunter syndrome].

Yi Chuan. 2006 May;28(5):521-4.

4

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.

5

[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].

Zhonghua Er Ke Za Zhi. 2006 Feb;44(2):110-3.

6

[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):67-9.

7

[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):269-71.

8

[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):243-5.

9

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Am J Hum Genet. 1996 Dec;59(6):1202-9.

10

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Hum Mutat. 1993;2(6):435-42. doi: 10.1002/humu.1380020603.

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