Thoracic aortic aneurysm or dissection

Gene: TNXB

Red List (low evidence)

606408 Ehlers-Danlos syndrome, classic-like, 1 -syndromic CTD with quadricuspid aortic valve and MVP.

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

Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype.

Created: 25 Mar 2019, 4:27 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, 10:59 a.m.

Red List (low evidence)

Tenascin X deficiency (From PMID: 20847697): Homozygous mutations have been identified in TNXB in a few individuals with an autosomal-recessive EDS phenotype characterized by joint hypermobility, skin hyperextensibility without atrophic scarring, easy bruising and occasionally increased laxity of the genitourinary tract causing uterine and vaginal prolapse, and increased risk for postpartum hemorrhage. Heterozygotes for the same mutation, especially females, appear to have an EDS hypermobility phenotype.
No links to vascular disease.

Created: 14 Feb 2016, 3:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
606408- Ehlers-Danlos syndrome due to tenascin X deficiency

Publications

• PMID: 11642233
• 20847697