Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

@article{David2016IdentificationOP,
  title={Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing},
  author={St{\'e}phanie David and Joana Ferreira and Olivier Quenez and Anne Rovelet-Lecrux and A. Hooley Richard and Marc V{\'e}rin and Snejana Jurici and Isabelle Le Ber and Anne Boland and Jean- François Deleuze and Thierry 11 Fr{\'e}bourg and Jo{\~a}o R M Oliveira and Didier Hannequin and Dominique Campion and Ga{\"e}l Nicolas},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={1630-1634}
}
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… CONTINUE READING
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SHOWING 1-10 OF 14 REFERENCES

Brain calci fi cation process and phenotypes according to age and sex : Lessons from SLC 20 A 2 , PDGFB , and PDGFRB mutation carriers

G Nicolas, C Charbonnier, RR deLemos
  • Am J Med Genet B Neuropsychiatr Genet
  • 2015

Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calci fi cation

M Vanlandewijck, T Lebouvier, M AndaloussiMae
  • PLoS One
  • 2015

Mutations in XPR 1 cause primary familial brain calci fi cation associated with altered phosphate export

A Legati, D Giovannini, G Nicolas
  • Nat Genet
  • 2015

Mutations in SLC 20 A 2 are a major cause of familial idiopathic basal ganglia calci fi cation

SC Hsu, RL Sears, RR Lemos
  • Neurogenetics
  • 2013

PDGFB mutations cause brain calci fi cations in humans and mice

A Keller, A Westenberger, MJ Sobrido
  • Nat Genet
  • 2013

Phenotypic spectrum of probable and genetically - con fi rmed idiopathic basal ganglia calci fi cation

G Nicolas, C Pottier, C Charbonnier
  • Brain
  • 2013

SLC 20 A 2 and THAP 1 deletion in familial basal ganglia calci fi cation with dystonia

M Baker, AJ Strongosky, MY Sanchez-Contreras
  • Neurogenetics
  • 2013