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.
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Cheng
C
Wang
Yulei
Y
Li
Lei
L
Shi
Jie
J
Ren
Monica
M
Patti
Tao
T
Wang
João R M
JR
de Oliveira
María-Jesús
MJ
Sobrido
Beatriz
B
Quintáns
Miguel
M
Baquero
Xiaoniu
X
Cui
Xiang-Yang
XY
Zhang
Lianqing
L
Wang
Haibo
H
Xu
Junhan
J
Wang
Jing
J
Yao
Xiaohua
X
Dai
Juan
J
Liu
Lu
L
Zhang
Hongying
H
Ma
Yong
Y
Gao
Xixiang
X
Ma
Shenglei
S
Feng
Mugen
M
Liu
Qing K
QK
Wang
Ian C
IC
Forster
Xue
X
Zhang
Jing-Yu
JY
Liu
D000818:Animals; D044466:Asian People; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006706:Homeostasis / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008126:Lod Score; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D009865:Oocytes / Q000378:metabolism; D010375:Pedigree; D010710:Phosphates / Q000378:metabolism*; D017422:Sequence Analysis, DNA; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*; D014982:Xenopus laevis
D005819:Genetic Markers; D010710:Phosphates; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III