GENERALISED ARTERIAL CALCIFICATION OF INFANCY

ENPP1 AND ABCC6 GENE ANALYSIS

Generalised Arterial Calcification of Infancy (GACI) is characterised by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. Survival to adulthood has been reported (Lorenz-Depiereux et al 2010 Am J Hum Genet 86, 267-272).

GACI is inherited in an autosomal recessive manner and is caused by disease-causing variants in the ENPP1 and ABCC6 genes (Nitschke et al 2012 Am J Hum Genet 90, 25-39). Disease-causing variants in the ENPP1 gene also cause Autosomal Recessive Hypophosphatemic Rickets (ARHR type 2) and disease-causing variants in both ENPP1 and ABCC6 also cause Pseudoxanthoma Elasticum.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.