Mutations in ADAMTS (a disintegrin-like and metalloprotease with thrombospondin type 1 motif) genes were also identified in acromelic dysplasias and mutations in THSD4 (encoding ADAMTSL6) in HTAA (heritable thoracic aortic aneurysms) suggesting that the ADAMTS proteins may have a functional link with fibrillin-1. The gene discussed is FBN1; the disease is acromelic dysplasia.