Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

被引：163

作者：

Grinberg, I

Northrup, H

Ardinger, H

Prasad, C

Dobyns, WB

Millen, KJ

机构：

[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[2] Univ Texas, Sch Med, Dept Pediat Med Genet, Houston, TX USA

[3] Univ Kansas, Dept Pediat, Kansas City, KS USA

[4] London Hlth Sci Ctr, Dept Pediat, London, ON, Canada

[5] London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON, Canada

[6] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[7] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

来源：

NATURE GENETICS | 2004年 / 36卷 / 10期

关键词：

D O I：

10.1038/ng1420

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial deletions in several individuals with DWM, we defined the first critical region associated with DWM, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4. Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation.

引用

页码：1053 / 1055

页数：3

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