Incidentalome
Gene: THSD4
5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: LiteratureCreated: 10 Jan 2021, 11:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thoracic aortic aneurysm and dissection (TAAD)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag cardiac tag was added to gene: THSD4.
Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825
Gene: thsd4 has been classified as Green List (High Evidence).
Gene: thsd4 has been classified as Green List (High Evidence).
gene: THSD4 was added gene: THSD4 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THSD4 were set to 32855533 Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD) Review for gene: THSD4 was set to GREEN