Journal
NATURE GENETICS
Volume 44, Issue 3, Pages 254-256Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.1077
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Funding
- National Natural Science Foundation of China [30670736, 30972655, 30730097, 31021091, 30871386]
- Program for Changjiang Scholars and Innovative Research Team in University (PCSIRT) [IRT1006]
- Swiss National Science Foundation
- John Simon Guggenheim Memorial Foundation
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico
- Institute of Health Carlos III
- FEDER funds
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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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