Thoracic aortic aneurysm or dissectionGene: FKBP14
614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - rare aortic rupture and occasional patent ductus arteriosus, with other cardiac involvement being tricuspid and mitral valve insufficiency.
Created: 25 Mar 2019, 4:30 p.m.
6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Not on Sherbrooke Genomic Medicine (SGM) not-for-profit TAAD panel: http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-en
Created: 19 Feb 2016, 3:01 p.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, 10:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
# 614557- Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Source South West GLH was added to FKBP14. Mode of inheritance for gene FKBP14 was changed from to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
FKBP14 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list