Heterozygous loss-of-function mutations in SMAD3 cause Loeys-Dietz syndrome type 3 (LDS3); also known as aneurysm-osteoarthritis syndrome (AOS), an autosomal dominant connective tissue disorder most prominently characterized by thoracic, cerebral or abdominal arterial aneurysms and/or dissections. Individuals with a mutation in the SMAD3 gene have a strong predisposition for osteoarthritis.
SMAD3