ArticlePloS one2013
Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 56 citations in OpenAlex.
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Article
- Microglia shield the murine brain from damage mediated by the cytokines IL-6 and IFN-α.Frontiers in immunology · 2022Article
- Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.Neurogenetics · 2021Article
- Case Report: Two Novel Frameshift Mutations inFrontiers in genetics · 2021Article
- Article
- A mutation inBone & joint research · 2020Article
- A NovelChinese medical journal · 2018Article
- Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.Journal of molecular neuroscience : MN · 2017Article
- Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.Scientific reports · 2017Article
- SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.Brain pathology (Zurich, Switzerland) · 2017Article
- Brain Calcification and Movement Disorders.Current neurology and neuroscience reports · 2017Review
- Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.Neurogenetics · 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
- First report of a de novo mutation at SLC20A2 in a patient with brain calcification.Journal of molecular neuroscience : MN · 2014Article
- The genetics of primary familial brain calcifications.Current neurology and neuroscience reports · 2014Review
- Novel mutation of SLC20A2 in an Italian patient presenting with migraine.Journal of neurology · 2014Article
- Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.Human mutation · 2014Article
- PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).Brain pathology (Zurich, Switzerland) · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequences of the SLC20A2 gene were amplified by PCR and then sequenced. Non-denaturing polyacrylamide gel electrophoresis (PAGE) was used to confirm the presence of mutations. Allele imbalances of the SLC20A2 gene or relative quantity of SLC20A2 transcripts were evaluated using qRT-PCR. A novel heterozygous single base-pair deletion (c.510delA) within the SLC20A2 gene was identified. This deletion mutation was found to co-segregate with basal ganglia calcification in all of the affected family members but was not detected in unaffected individuals or in 167 unrelated Han Chinese controls. The mutation will cause a frameshift, producing a truncated SLC20A2 protein with a premature termination codon, most likely leading to the complete loss of function of the SLC20A2 protein. This mutation may also lead to a reduction in SLC20A2 mRNA expression by approximately 30% in cells from affected individuals. In conclusion, we identified a novel mutation in SLC20A2 that is linked to FIBGC. In addition to the loss of function at the protein level, decreasing the expression of SLC20A2 mRNA may be another mechanism that can regulate SLC20A2 function in IBGC individuals. We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.