6533b826fe1ef96bd1283c77

RESEARCH PRODUCT

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

Qing Kenneth WangMiguel BaqueroYulei LiCheng WangJoão Ricardo Mendes De OliveiraLianqing WangJingyu LiuXiaoniu CuiXiaohua DaiJunhan WangIan C. ForsterMugen LiuMaría Jesús SobridoXue ZhangTao WangHaibo XuShenglei FengJing YaoJuan LiuXiang Yang ZhangBeatriz QuintánsMonica PattiLu ZhangJie RenYong GaoHongying MaLei ShiXixiang Ma

subject

Genetic Markersmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataMutation MissenseXenopusBasal ganglia calcification610 Medicine & healthPhosphates10052 Institute of PhysiologyXenopus laevis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAsian PeopleBasal Ganglia Diseases1311 GeneticsCalcinosisGenetic linkageInternal medicineGeneticsmedicineAnimalsHomeostasisHumansBasal ganglia disease030304 developmental biology0303 health sciencesBase SequencebiologySodium-Phosphate Cotransporter Proteins Type IIIParkinsonismCalcinosisSequence Analysis DNAmedicine.diseasePhosphatebiology.organism_classificationPedigreeEndocrinologychemistry10076 Center for Integrative Human PhysiologyOocytes570 Life sciences; biologyLod Score030217 neurology & neurosurgeryHomeostasisChromosomes Human Pair 8

description

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.

yearjournalcountryeditionlanguage
2012-01-01Nature genetics
10.1038/ng.1077http://dx.doi.org/10.1038/ng.1077