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

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

  • Nat Genet. 2004 Oct;36(10):1053-5. doi: 10.1038/ng1420.
Inessa Grinberg 1 Hope Northrup Holly Ardinger Chitra Prasad William B Dobyns Kathleen J Millen
Affiliations

Affiliation

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

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