Thoracic aortic aneurysm and dissection

Gene: THSD4

No list

THSD4 (thrombospondin type 1 domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000187720
EnsemblGeneIds (GRCh37): ENSG00000187720
OMIM: 614476, Gene2Phenotype
THSD4 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Literature
Created: 16 Jan 2021, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm and dissection (TAAD)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Thoracic aortic aneurysm and dissection (TAAD)
OMIM
614476
Clinvar variants
Variants in THSD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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