Thoracic aortic aneurysm or dissection
Gene: ZNF469
229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapseCreated: 25 Mar 2019, 4:30 p.m.
Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
229200- Brittle cornea syndrome 1
Publications
Source South West GLH was added to ZNF469. Mode of inheritance for gene ZNF469 was changed from to BIALLELIC, autosomal or pseudoautosomal
ZNF469 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list