ABCMdb

PMID: 23802012

Hendig D, Knabbe C, Gotting C
New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.
Front Genet. 2013 Jun 19;4:114. doi: 10.3389/fgene.2013.00114. eCollection 2013., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC6 p.Arg1141* The most frequent mutation found in PXE patients is a nonsense mutation in exon 24, p.R1141X (c.3421C>T, rs72653706), which is found in approximately 25% of the European patient population. Login to comment 40 ABCC6 p.Arg1141* Mother and maternal aunt were identified as compound heterozygous carriers of the recurrent ABCC6 nonsense mutation p.R1141X and a missense mutation in GGCX (p.S300F). Login to comment 115 ABCC6 p.Arg1268Gln Wang et al. (2001) reported an association of the frequent ABCC6 p.R1268Q variant (c.3803G>A, rs2238472) with plasma triglyceride and low HDL (high-density lipoprotein) cholesterol. Login to comment 118 ABCC6 p.Arg1141* Few studies investigated the correlation of ABCC6 mutations with cardiovascular disease and identified the frequent mutation p.R1141X as a strong genetic risk factor for CAD (Trip et al., 2002; Wegman et al., 2005; K&#f6;bl&#f6;s et al., 2010). Login to comment