Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
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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ZIC1 expression is restricted to the pia mater overlying cortex, indicating SG samples captured pial cells in addition to granule cells.
“Finally, expression of ZIC1, associated with Dandy-Walker congenital brain malformation33, was restricted to the pia mater overlying the cortex, therefore indicating that SG samples captured pial cells in addition to granule cells.”
From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [33]
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- Authors
- Grinberg, I., Northrup, H., Ardinger, H., Prasad, C., Dobyns, W. B., & Millen, K. J.
- Affiliations
- University of Chicago (US)
- University of Kansas (US)
- London Health Sciences Centre (CA)
- Corresponding author
- Millen, Kathleen J
- Venue
- Nature Genetics
- Published
- 2004-08-29
- Volume
- 36
- Issue
- 10
- Pages
- 1053-1055
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2037656814
- Cited by
- 246
- References
- 15
- Citations by year
- 2026: 13 · 2025: 13 · 2024: 12 · 2023: 9 · 2022: 14 · 2021: 13 · 2020: 8 · 2019: 6 · 2018: 12 · 2017: 4 · 2016: 10 · 2015: 14 · 2014: 7 · 2013: 19 · 2012: 16
- FWCI
- 9.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Brain Research Foundation
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Dandy-Walker malformation, ZIC1, ZIC4, heterozygous deletion, zinc finger genes, mouse model, physical mapping, critical region
- MeSH terms
- Animals, Cerebellum, Child, Chromosome Deletion, Chromosomes, Human, Pair 3, Dandy-Walker Syndrome, Disease Models, Animal, Heterozygote, Humans, Genetic Linkage, Magnetic Resonance Imaging, Mice, Mutant Strains, Molecular Sequence Data, Nerve Tissue Proteins, Phenotype, Transcription Factors, Zinc Fingers, Physical Chromosome Mapping, Mice
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