Table 1 Compound heterozygous mutations in LTBP3 identified in patient AD2002
From: Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Mutations | Inheritance | MAF | Pathogenicity | ACMG evidence | Genotype of relatives |
|---|---|---|---|---|---|
LTBP3: NM_001130144: c.1965del (p.Arg656Alafs*6) | Autosomal recessive | 0 | Pathogenic | PVS1, PM2, PM3 | Father: −/− Mother: +/− Sister: +/− Elder son: −/− Youngest son: −/− |
LTBP3: NM_001130144: c.625dup (p.Leu209Profs*38) | Autosomal recessive | 0 | Pathogenic | PVS1, PS2, PM2, PM3 | Father:−/− Mother:−/− Sister: −/− Elder son: +/− Youngest son: +/− |