Deconstructing DiGeorge syndrome

被引：27

作者：

Schinke, M ^{[1
]}

Izumo, S ^{[1
]}

机构：

[1] Harvard Univ, Beth Israel Deaconess Med Ctr, Sch Med, Dept Med,Cardiovasc Div, Boston, MA 02215 USA

来源：

NATURE GENETICS | 2001年 / 27卷 / 03期

关键词：

D O I：

10.1038/85784

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DiGeorge syndrome is the most frequent contiguous-gene deletion syndrome in humans, occurring with an estimated frequency of 1 in 4,000 live births. Extensive microdeletion mapping in a large number of affected individuals has failed to identify a single gene or a combination of genes commonly deleted. Two new studies implicate the transcription factor TBX1 as a key candidate gene for the aortic arch malformations seen in DGS, and are consistent with the concept that some congenital diseases are caused by a reduced dosage of genes that control development. However, a similar study focusing on the adaptor protein Crkol shows that other genes within the deleted regions might affect the same developmental pathways.

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页码：238 / 240

页数：3

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