Article
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2020
Cassinari Kévin, Rovelet-Lecrux Anne, Tury Sandrine, Quenez Olivier, Richard Anne-Claire, Charbonnier Camille, Olaso Robert, Boland Anne, Deleuze Jean-François, Besancenot Jean-François, Delpont Benoit, Pouliquen Dorothée, Lecoquierre François, Chambon Pascal, Thauvin-Robinet Christel, Campion Dominique, Frebourg Thierry, Battini Jean-Luc, Nicolas Gaël
Abstract excerpt
OBJECTIVE: Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of...
Topics
- Brain
- Brain Diseases
- DNA Copy Number Variations
- HEK293 Cells
- Haploinsufficiency
- Humans
- Mutation
- Sodium-Phosphate Cotransporter Proteins, Type III