Thoracic aortic aneurysm and dissectionGene: THSD4
5 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.
Created: 16 Jan 2021, 12:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection (TAAD)
gene: THSD4 was added gene: THSD4 was added to Thoracic aortic aneurysm and dissection. 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