Aortopathy_Connective Tissue Disorders

Gene: THBS2

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, classic type, 3, MIM# 620865

I don't know

One family with autosomal dominant inheritance of a THBS2 missense variant (NM_003247.5:c.2686T>C p.Cys896Arg). The index patient in this family presented with a history of multiple joint dislocations, easy bruising, prolonged wound healing and a diagnosis of bilateral greater saphenous vein insufficiency.

This individual's mother who also carries the variant was noted as having prolonged bleeding, thickened mitral valve and dilated aortic arch.

No other variants in 15 known EDS-related genes were identified in the index individual. Sanger sequencing confirmed this variants presence in the two other affected family members and its absence in an unaffected member.

Mouse knock-in of this variant demonstrated that mutant mice had hyper-flexibility of their tails and dramatically longer bleeding times when compared with wildtype mice.

Created: 7 Mar 2024, 12:59 a.m. | Last Modified: 7 Mar 2024, 12:59 a.m.

Panel Version: 1.82

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
connective tissue disorder MONDO:0003900, THBS2-related

Publications

• PMID: 38433265