NDLI: SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Content Provider	Springer Nature Link
Author	Baker, Matt Strongosky, Audrey J. Sanchez Contreras, Monica Y. Yang, Shan Ferguson, Will Calne, Donald B. Calne, Susan Stoessl, A. Jon Allanson, Judith E. Broderick, Daniel F. Hutton, Michael L. Dickson, Dennis W. Ross, Owen A. Wszolek, Zbigniew K. Rademakers, Rosa
Copyright Year	2013
Abstract	Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete spectrum of possible mutations. We identified SLC20A2 pathogenic mutations in two of the 27 cases of IBGC (7 %). Sequencing analysis identified a p.S113* nonsense mutation in SLC20A2 in one case. TaqMan copy number analysis of SLC20A2 further revealed a genomic deletion in a second case, which was part of a large previously reported Canadian IBGC family with dystonia. Subsequent whole-genome sequencing in this family revealed a 563,256-bp genomic deletion with precise breakpoints on chromosome 8 affecting multiple genes including SLC20A2 and the known dystonia-related gene THAP1. The deletion co-segregated with disease in all family members. The deletion of THAP1 in addition to SLC20A2 in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family. The identification of an SLC20A2 genomic deletion in a familial form of IBGC demonstrates that reduced SLC20A2 in the absence of mutant protein is sufficient to cause neurodegeneration and that previously reported SLC20A2 mutation frequencies may be underestimated.
Starting Page	23
Ending Page	30
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	15
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2013-10-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Basal ganglia calcification Dystonia SLC20A2 THAP1 Genomic deletion Mutation Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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'Comment on the Paper "SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia" by Baker et al.'

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

'Comment on the Paper "SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia" by Baker et al.'

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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

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