AUTHOR=Nitschke Yvonne , Rutsch Frank 

TITLE=Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

JOURNAL=Frontiers in Genetics

VOLUME=3

YEAR=2012

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2012.00302

DOI=10.3389/fgene.2012.00302

ISSN=1664-8021

ABSTRACT=<p>Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in <italic>ENPP1</italic> in the majority of cases, whereas mutations in <italic>ABCC6</italic> (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE). However, <italic>ABCC6</italic> mutations account for a significant subset of GACI cases, and <italic>ENPP1</italic> mutations can also be associated with PXE lesions. Based on the considerable overlap of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification rather than two distinct disorders. <italic>ABCC6</italic> and <italic>ENPP1</italic> mutations might lead to alterations of the same physiological pathways.</p>