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Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. The disorder is marked by aneurysms in the aorta, often in children. The aorta may also undergo sudden dissection in the weakened layers of the wall of aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. There are four types of the syndrome, labelled types I through IV, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, and Type 4 are caused by mutations in ''TGFBR1'', ''TGFBR2'', ''SMAD3'', and ''TGFB2'' respectively. These four genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissues. Mutations of these genes cause production of proteins without function. Although the disorder has an autosomal pattern of inheritance, this disorder results from a new gene mutation in 75% of cases and occurs in people with no history of the disorder in their family. It has features similar to Marfan syndrome and Ehlers-Danlos syndrome. It was identified and characterized by pediatric geneticists Bart Loeys and Harry Dietz at Johns Hopkins University in 2005. ==Types== Several genetic causes of Loeys–Dietz syndrome have been identified. A ''de novo'' mutation in TGFB3, a ligand of the TGF ß pathway, was identified in an individual with a syndrome presenting partially overlapping symptoms with Marfan Syndrome and Loeys-Dietz Syndrome.〔Rienhoff HY, Yeo C-Y, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim Y-J, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M. 2013. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis, and clinical features overlapping with Marfan and Loeys–Dietz syndrome. Am J Med Genet Part A. 161A:2040–2046.〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Loeys–Dietz syndrome」の詳細全文を読む スポンサード リンク
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