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

  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},
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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