Aortopathy_Connective Tissue Disorders

Gene: LTBP3

Green List (high evidence)

3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.

Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.

Created: 21 Oct 2022, 6:48 a.m. | Last Modified: 21 Oct 2022, 6:48 a.m.

Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dental anomalies and short stature - MIM#601216; thoracic aortic aneurysms

Publications

• PMID: 34906192

I don't know

2 families with biallelic variants with thoracic aortic aneurysms and dissections and other arterial aneurysms, along with skeletal and dental defects. TAA hasn't been reported in other dental anomalies and short stature cases with biallelic LTBP3 variants. Individuals with heterozygous mutations in LTBP3 may also be at increased risk for later-onset thoracic aortic disease, 9/338 isolated TAD individuals had rare heterozygous variants. Null mouse model had thoracic aortic aneurysms
Sources: Other

Created: 11 Aug 2021, 5:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Thoracic aortic aneurysms and dissections

Publications

• 29625025
• 34150014