Thoracic aortic aneurysm or dissection

Gene: COL11A2

Red List (low evidence)

601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes on HGMD

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm 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, 10:54 a.m.

Red List (low evidence)

Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions (see ref above). No known link to TAAD.

Created: 14 Feb 2016, 11:20 a.m.

Phenotypes
#601868- Deafness, autosomal dominant 13; #609706- Deafness, autosomal recessive 53; #614524- Fibrochondrogenesis 2; # 215150- Otospondylomegaepiphyseal dysplasia; #184840- Stickler syndrome, type III; #277610- Weissenbacher-Zweymuller syndrome

Publications

• PMID: 20618517