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ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation 

ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation
Chapter:
ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation
Author(s):

Kathleen J. Millen

DOI:
10.1093/med/9780199934522.003.0137
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date: 04 March 2021

Dandy-Walker malformation (DWM) is a common malformation of the cerebellum and posterior fossa diagnosed by brain imaging studies. DWM can occur in isolation or as part of a recognized genetic syndrome. Many cases come to clinical attention through standard prenatal ultrasound screening and outcome if variable. Isolated DWM has very low recurrence risk and inheritance is likely complex. The first loci characterized encode transcription factors (ZIC1, ZIC4 and FOXC1). Although deletions of these genes are an uncommon cause of DWM, accounting for less than 5% of all cases, analysis of DWM in mouse models with loss of these genes has been highly informative. These studies have demonstrated that the pathogenesis of DWM is caused by dysregulation of the normal development of three interdependent embryonic structures during early embryogenesis: the cerebellum, fourth ventricle choroid plexus and the posterior fossa itself.

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