Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin
Open Access
- 1 January 2012
- journal article
- review article
- Published by Frontiers Media SA in Frontiers in Genetics
- Vol. 3, 37160
- https://doi.org/10.3389/fgene.2012.00302
Abstract
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant subset of GACI cases, and ENPP1 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. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways.Keywords
This publication has 26 references indexed in Scilit:
- Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1geneBritish Journal of Dermatology, 2012
- Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6Published by Elsevier ,2011
- Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findingsAmerican Journal of Medical Genetics Part A, 2010
- Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 GeneAmerican Journal of Human Genetics, 2010
- Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic RicketsAmerican Journal of Human Genetics, 2010
- Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsExperimental Dermatology, 2008
- Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patientsHuman Mutation, 2007
- Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma ElasticumClinical Chemistry, 2006
- Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationNature Genetics, 2003
- Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase familyBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2003