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Brief Communication
Nature Genetics  36, 1053 - 1055 (2004)
Published online: 29 August 2004; | doi:10.1038/ng1420

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

Inessa Grinberg1, Hope Northrup2, Holly Ardinger3, Chitra Prasad4, William B Dobyns1, 5, 6 & Kathleen J Millen1

1  Department of Human Genetics, The University of Chicago, Room 319 CLSC, 920 E. 58th Street, Chicago, Illinois 60637, USA.

2  Department of Pediatrics (Medical Genetics), University of Texas, Medical School at Houston, Houston, Texas, USA.

3  Department of Pediatrics, University of Kansas, Kansas City, Kansas, USA.

4  Department of Pediatrics and Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.

5  Department of Neurology, The University of Chicago, Chicago, Illinois, USA.

6  Department of Pediatrics, The University of Chicago, Chicago, Illinois, USA.

Correspondence should be addressed to Kathleen J Millen kmillen@genetics.bsd.uchicago.edu
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.


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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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