Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
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Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.
- PubMed ID
- 22327515 [ View in PubMed]
- 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.