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

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

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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.

Original language	English (US)
Pages (from-to)	1053-1055
Number of pages	3
Journal	Nature Genetics
Volume	36
Issue number	10
DOIs	https://doi.org/10.1038/ng1420
State	Published - Oct 2004
Externally published	Yes

Bibliographical note

Funding Information:
We thank the affected individuals and their families for their participation, P. Soriano for providing the pPGKneo DTA vector and E. McNally and C. Roe for discussions and reading the manuscript. This work was supported by a Ragins-Goldsmith Fellowship and the Medical Scientist Training grant (to I.G.), a grant from the Brain Research Foundation of Chicago (to K.J.M.) and grants from the National Institute of Health (to K.J.M. and W.B.D.).

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title = "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.",

author = "Inessa Grinberg and Hope Northrup and Holly Ardinger and Chitra Prasad and Dobyns, {William B.} and Millen, {Kathleen J.}",

note = "Funding Information: We thank the affected individuals and their families for their participation, P. Soriano for providing the pPGKneo DTA vector and E. McNally and C. Roe for discussions and reading the manuscript. This work was supported by a Ragins-Goldsmith Fellowship and the Medical Scientist Training grant (to I.G.), a grant from the Brain Research Foundation of Chicago (to K.J.M.) and grants from the National Institute of Health (to K.J.M. and W.B.D.).",

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T1 - Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

AU - Grinberg, Inessa

AU - Northrup, Hope

AU - Ardinger, Holly

AU - Prasad, Chitra

AU - Dobyns, William B.

AU - Millen, Kathleen J.

N1 - Funding Information: We thank the affected individuals and their families for their participation, P. Soriano for providing the pPGKneo DTA vector and E. McNally and C. Roe for discussions and reading the manuscript. This work was supported by a Ragins-Goldsmith Fellowship and the Medical Scientist Training grant (to I.G.), a grant from the Brain Research Foundation of Chicago (to K.J.M.) and grants from the National Institute of Health (to K.J.M. and W.B.D.).

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

Abstract

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