Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

@article{Nitschke2012GeneralizedAC,
  title={Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.},
  author={Yvonne Nitschke and Genevi{\`e}ve Baujat and Ulrike Botschen and Tanja Wittkampf and Marcel du Moulin and Jacqueline Stella and Martine F Le Merrer and Genevi{\`e}ve Guest and Karen Lambot and Marie-Frederique Tazarourte-Pinturier and Nicolas Chassaing and Olivier Roche and Ilse Feenstra and Karen J. Loechner and Charu Deshpande and Samuel J. Garber and Rashmi Chikarmane and Beat Steinmann and Tatevik Shahinyan and Loreto Martorell and Justin E. Davies and Wendy Smith and Stephen G. Kahler and Mignon Irene McCulloch and Elizabeth A Wraige and Lourdes Loidi and Wolfgang Hoehne and Ludovic Martin and Sma{\"i}l Hadj-Rabia and Robert A. Terkeltaub and Frank Rutsch},
  journal={American journal of human genetics},
  year={2012},
  volume={90 1},
  pages={25-39}
}
Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to… CONTINUE READING