Thoracic aortic aneurysm or dissection
Gene: FOXE3
617349 susceptibility to aortic aneurysmCreated: 25 Mar 2019, 4:30 p.m.
Kuang et al (J Clin Invest. 2016;126:948 PMID:26854927) describe several variants found in patients with TAAD. All variants associated with TAAD were located in the Forkhead domain. Segregation evidence for two of these variants but incomplete penetrance in that heterozygous male carriers are affected in this study but two heterozygous female carriers are unaffected. 8 family members affected with TAAD - all are male. Suggest FOXE3 mutations lead to reduced numbers of aortic smooth muscle cells and increased smooth muscle cell apoptosis in response to biomechanical stress.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Two families described in PMID: 26854927.Created: 12 Apr 2017, 3:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Aortic aneurysm, familial thoracic 11, susceptibility to}
Publications
Source South West GLH was added to FOXE3. Mode of inheritance for gene FOXE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to FOXE3.
FOXE3 was created by ellenmcdonagh
FOXE3 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Literature