西亚试剂：Mutations in SLC20A2 link familial idiopathic basal

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

Cheng Wang,  Yulei Li,  Lei Shi,  Jie Ren,  Monica Patti,  Tao Wang,  João R M de Oliveira,  María-Jesús Sobrido,  Beatriz Quintáns,  Miguel Baquero,  Xiaoniu Cui,  Xiang-Yang Zhang,  Lianqing Wang,  Haibo Xu,  Junhan Wang,  Jing Yao,  Xiaohua Dai,  Juan Liu,  Lu Zhang,  Hongying Ma,  Yong Gao,  Xixiang Ma,  Shenglei Feng,  Mugen Liu,  Qing K Wang  

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.