DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression

被引：0

作者：

Timms, KM ^{[1
]}

Huckett, LE ^{[1
]}

Belmont, JW ^{[1
]}

Shapira, SK ^{[1
]}

Gibbs, RA ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

HUMAN MUTATION | 1998年 / 11卷 / 02期

关键词：

IDS; DNA deletion; Hunter syndrome;

D O I：

10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Deficiency of the enzyme iduronate 2 sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder. In this study, analysis of a patient with features of moderate to severe Hunter syndrome identified a 178-bp deletion upstream of IDS exon 1 spanning a predicted promoter element. Sequencing of all nine IDS exons from this patient failed to identify any additional mutations within the coding regions or in intron-exon boundaries. The 178-bp deletion is flanked by two 13-bp direct repeats and potential DNA topoisomerase II recognition sites. These findings point toward non-homologous recombination as a possible mechanism for this mutation. Expression studies on this patient do not detect any IDS transcripts, indicating that the deletion spans sequences essential for IDS expression. Complete lack of expression of IDS is consistent with the moderate to severe phenotype observed in this patient. (C) 1998 Wiley-Liss, Inc.

引用

页码：121 / 126

页数：6