Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
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.
PubMed ID: 22327515
Article link: Nat Genet.
Genes referenced: enpp1 nt5e slc20a1 slc20a2