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Article

The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.

Genetic testing and molecular biomarkers - 1 Feb 2010

Köblös Gabriella, Andrikovics Hajnalka, Prohászka Zoltán, Tordai Attila, Váradi András, Arányi Tamás

Abstract excerpt

Loss-of-function mutations of ABCC6 cause pseudoxanthoma elasticum (PXE). This Mendelian disorder is characterized by elastic calcification leading to dermal, ocular, and cardiovascular symptoms like coronary artery disease (CAD) and stroke. Although PXE is a recessive disease, microscopic dermal...

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Source

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Identifiers

PMID: 19929409
DOI: 10.1089/gtmb.2009.0094
PMCID: PMC2935842

Genes

CAD
ABCC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19929409-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.PMID 19929409Read ↗

Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.Semantic proximity Read ↗

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.Semantic proximity Read ↗

Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.Semantic proximity Read ↗

Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.Semantic proximity Read ↗

Analysis of clinical symptoms and ABCC 6 mutations in 76 Japanese patients with pseudoxanthoma elasticumSemantic proximity Read ↗

Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).Semantic proximity Read ↗

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Semantic proximity Read ↗

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.Semantic proximity Read ↗

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.Semantic proximity Read ↗

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.Semantic proximity Read ↗

Pseudoxanthoma elasticumSemantic proximity Read ↗

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

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