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

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

doi:10.1038/ng1420

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. Epub 2004 Aug 29.

Authors

Inessa Grinberg¹, Hope Northrup, Holly Ardinger, Chitra Prasad, William B Dobyns, Kathleen J Millen

Affiliation

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

PMID: 15338008
DOI: 10.1038/ng1420

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.

MeSH terms

Animals
Cerebellum / abnormalities
Child
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics
Dandy-Walker Syndrome / genetics*
Dandy-Walker Syndrome / pathology
Disease Models, Animal
Genetic Linkage
Heterozygote
Humans
Magnetic Resonance Imaging
Mice
Mice, Mutant Strains
Molecular Sequence Data
Nerve Tissue Proteins / genetics*
Phenotype
Physical Chromosome Mapping
Transcription Factors / genetics*
Zinc Fingers / genetics

Substances

Nerve Tissue Proteins
Transcription Factors
ZIC1 protein, human
ZIC4 protein, human
Zic1 protein, mouse

Associated data

GENBANK/AC021861
GENBANK/AC117386
GENBANK/AC131210
GENBANK/AK094286
GENBANK/BC063247
OMIM/220200
RefSeq/NM_003412
RefSeq/NM_009576