ABCMdb

PMID: 19116367

Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Am J Pathol. 2009 Feb;174(2):534-40. Epub 2008 Dec 30., [PubMed]

Sentences

No. Mutations Sentence Comment

148 ABCC6 p.Arg1141* Genetic Heterogeneity of PXE The complementary nature of the ABCC6 and GGCX gene defects has been demonstrated by previous phenotypic observations of a family with features of PXE in association with vitamin K-dependent coagulation factor deficiency.20 While some of the members of that family were compound heterozygotes for missense mutations in the GGCX gene, two patients with characteristic PXE-like cutaneous findings were found to be heterozygous for a missense mutation in the GGCX gene (p.V255M) and a recurrent nonsense mutation (p.R1141X) in the ABCC6 gene in trans. Login to comment