Thoracic aortic aneurysm or dissection

Gene: SLC39A13

Red List (low evidence)

612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3 - no cardiac phenotype on OMIM; no relevant phenotypes on HGMD and only 3 variants described in association with EDS

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

Mode of inheritance
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, 10:58 a.m.

Red List (low evidence)

The spondylocheirodyplastic form of EDS caused by mutations in the SLC39A13 gene is characterized by hyperextensible thin skin, easy bruising, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Skeletal surveys show platyspondyly with moderate short stature, osteopenia, and widened metaphyses. No links to vascular disease.

Created: 14 Feb 2016, 2:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612350- Spondylocheirodysplasia, Ehlers-Danlos syndrome-like

Publications

• PMID: 18513683