TGFBR1 and Loeys-Dietz syndrome: Although the great majority of mutations in Loeys-Dietz syndrome are missense mutations located within the kinase domain of TGFBR2 or TGFBR1, only three of our six novel mutations fit within this category: p.N384K and p.A414T in TGFBR2 and p.S241P in TGFBR1 which were all predicted to be probably disease causing in bioinformatic analysis.