ArticleEuropean journal of human genetics : EJHG2016
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- Upstream open reading frame-introducing variants in patients with primary familial brain calcification.European journal of human genetics : EJHG · 2024Article
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- PDGF receptor mutations in human diseases.Cellular and molecular life sciences : CMLS · 2021Review
- Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.European journal of human genetics : EJHG · 2021Article
- Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.The Journal of biological chemistry · 2020Article
- Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.Journal of human genetics · 2019Article
- Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.Neurogenetics · 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
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We detected two deletions of exon 2 of SLC20A2 in two unrelated patients, which segregated with PBC in one family. We then reanalyzed the same series using a QMPSF assay including one amplicon in each exon of SLC20A2 and detected two supplemental partial deletions in two patients: one deletion of exon 4 and one deletion of exons 4 and 5. These deletions were missed by the first screening step of CANOES but could finally be detected after readjustment of bioinformatic parameters and use of a genotyping step of CANOES. This study reports the first partial deletions of SLC20A2 and strengthens its position as the major PBC-causative gene. It is possible to detect short CNVs from WES data, although the sensitivity of such tools should be evaluated in comparison with other methods.
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