Thoracic aortic aneurysm or dissection (GMS)

Gene: ABCC6

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.

Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.

Panel Version: 0.35

Red List (low evidence)

Definitely associated with pseudoxanthoma elasticum, which includes cardiovascular malformations, but no single association with TAAD.

Created: 2 Oct 2019, 12:21 p.m. | Last Modified: 2 Oct 2019, 12:21 p.m.

Panel Version: 0.32

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum 264800; Pseudoxanthoma elasticum, forme fruste 177850; Arterial calcification, generalized, of infancy, 2 614473

Publications

• 28102862

Red List (low evidence)

264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm

Created: 25 Mar 2019, 4:30 p.m.

Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Not on the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.

Created: 19 Feb 2016, 10:51 a.m.

Red List (low evidence)

Pseudoxanthoma elasticum caused by ABCC6 deficiency in humans shows postnatally acquired elastic fibre fragmentation in the aorta, but does not typically show aneurysm (see ref above). No reports in the literature associating ABCC6 variants with thoracic aortic aneurysm.

Created: 9 Feb 2016, 4:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste

Publications

• PMID: 10835643