ArticleJournal of molecular neuroscience : MN2014
First report of a de novo mutation at SLC20A2 in a patient with brain calcification.
Article in Journal of molecular neuroscience : MN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- A Novel Frameshift Mutation inBiomedicines · 2026Article
- Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.Scientific reports · 2025Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- The Pathology of Primary Familial Brain Calcification: Implications for Treatment.Neuroscience bulletin · 2023Review
- Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.Neurogenetics · 2021Article
- A mutation inBone & joint research · 2020Article
- Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.Neurology. Clinical practice · 2020Review
- Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.Scientific reports · 2019Article
- Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.Scientific reports · 2019Article
- Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB.Journal of molecular neuroscience : MN · 2019Article
- Primary brain calcification: an international study reporting novel variants and associated phenotypes.European journal of human genetics : EJHG · 2018Article
- Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Scientific reports · 2017Article
- Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.Journal of molecular neuroscience : MN · 2017Article
- Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.Journal of molecular neuroscience : MN · 2017Article
- New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications.Journal of molecular neuroscience : MN · 2016Article
- Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1.Scientific reports · 2016Article
- Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.Neurogenetics · 2016Article
- Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate.Scientific reports · 2016Article
- Primary familial brain calcification: update on molecular genetics.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. The p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.
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