连锁基因ZIC1和ZIC4的杂合缺失与Dandy-Walker畸形有关。

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

作者信息

Grinberg Inessa, Northrup Hope, Ardinger Holly, Prasad Chitra, Dobyns William B, Millen Kathleen J

机构信息

Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

出版信息

Nat Genet. 2004 Oct;36(10):1053-5. doi: 10.1038/ng1420. Epub 2004 Aug 29.

DOI:10.1038/ng1420

PMID:15338008

Abstract

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.

摘要

丹迪-沃克畸形（DWM；OMIM #220200）是人类常见但了解甚少的先天性小脑畸形。通过对几名患有DWM的个体进行3q2间质缺失的物理图谱分析，我们确定了与DWM相关的首个关键区域，该区域包含两个相邻的小脑锌指基因ZIC1和ZIC4。这两个连锁基因杂合缺失的小鼠具有与DWM极为相似的表型，为这种畸形提供了一个小鼠模型。