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Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

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  • 1Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.

Abstract

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

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PMID:
22327515
[PubMed - indexed for MEDLINE]
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