NDLI: Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Content Provider	Springer Nature Link
Author	Hsu, Sandy Chan Sears, Renee L. Lemos, Roberta R. Quintáns, Beatriz Huang, Alden Spiteri, Elizabeth Nevarez, Lisette Mamah, Catherine Zatz, Mayana Pierce, Kerrie D. Fullerton, Janice M. Adair, John C. Berner, Jon E. Bower, Matthew Brodaty, Henry Carmona, Olga Dobricić, Valerija Fogel, Brent L. García Estevez, Daniel Goldman, Jill Goudreau, John L. Hopfer, Suellen Janković, Milena Jaumà, Serge Jen, Joanna C. Kirdlarp, Suppachok Klepper, Joerg Kostić, Vladimir Lang, Anthony E. Linglart, Agnès Maisenbacher, Melissa K. Manyam, Bala V. Mazzoni, Pietro Miedzybrodzka, Zofia Mitarnun, Witoon Mitchell, Philip B. Mueller, Jennifer vaković, Ivana Paucar, Martin Paulson, Henry Simpson, Sheila A. Svenningsson, Per Tuite, Paul Vitek, Jerrold Wetchaphanphesat, Suppachok Williams, Charles Yang, Michele Schofield, Peter R. Oliveira, João R. M. Sobrido, María Jesús Geschwind, Daniel H. Coppola, Giovanni
Copyright Year	2013
Abstract	Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
Starting Page	11
Ending Page	22
Page Count	12
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	14
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2013-01-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Basal ganglia calcification Fahr's Genetics Sequencing Mutations Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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