De Barsy syndrome and ATP6V0A2-CDG

  title={De Barsy syndrome and ATP6V0A2-CDG},
  author={Elisa Le{\~a}o-Teles and Dulce Quelhas and Laura Vilarinho and Jaak Jaeken},
  journal={European Journal of Human Genetics},
We read with interest the nice review of Morava et al1 on the autosomal recessive cutis laxa syndromes. The authors mention the De Barsy syndrome and state that the genetic background of the De Barsy syndrome has not yet been identified. However, in the paper by Kornak et al2 on impaired glycosylation and cutis laxa caused by mutations in ATP6V0A2 (ATP6V0A2-CDG according to the novel nomenclature3,4), one of the patients (see patient CoFe in Table 1 of Kornak et al2) shows the full clinical… CONTINUE READING