Thoracic aortic aneurysm or dissection

Gene: COL11A1

Red List (low evidence)

154780 AD Marshall syndrome; 604841 AD Stickler syndrome, type II; 228520 AR Fibrochondrogenesis 1. None of these have aortic involvement (Patent foramen ovale in Fibrochondrogeneis 1); no relevant phenotypes listed 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.

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)

Stickler syndrome associated with mitral valve prolapse (can be considered as continuum of TAAD in the context of HLHS) although results are conflicting (MVP has been reported in nearly 50% of individuals with Stickler syndrome in one series and no individuals in another- see ref above).

Created: 12 Feb 2016, 10:26 a.m.

Phenotypes
#228520- Fibrochondrogenesis 1; #154780- Marshall syndrome; #604841- Stickler syndrome, type II; #603932- Lumbar disc herniation, susceptibility to

Publications

• PMID: 12503098