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Aneurysm Syndromes and TGF-0 Receptor Mutations

机译:动脉瘤综合征和TGF-0受体突变

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to the editor: Loeys et al. (Aug. 24 issue)1 describe the clinical and molecular characteristics of the Loeys-Dietz syndrome associated with mutations in the genes encoding transforming growth factor beta (TGF-beta) receptors 1 and 2 (TGFBR1 and TGFBR2, respectively).We found mutations in TGFBRI and TGFBR2 in 19 members of 11 unrelated families, including 1 healthy 12-year-old carrier. Eighteen had aortic aneurysm or dissection. Of the 19 patients with mutations in these genes, 11 had at least one of the traits of the Loeys-Dietz syndrome, and the characteristics of 3 adults, met the Ghent criteria2 for Marfan's syndrome. Seven patients did not have bifid uvula, cleft palate, craniosynostosis, hypertelorism, or generalized arterial tortuosity. Of these patients, two met the Ghent criteria and five had aortic dissection, including two with maximal aortic dimensions of less than 5.0 cm.
机译:致编辑:Loeys等。 (8月24日发行)1描述了与转化生长因子β(TGF-beta)受体1和2(分别为TGFBR1和TGFBR2)编码基因突变相关的Loeys-Dietz综合征的临床和分子特征。 TGFBRI和TGFBR2在11个无关家庭的19个成员中进行了检测,其中包括1个健康的12岁携带者。 18例有主动脉瘤或夹层。在这些基因突变的19例患者中,有11例具有Loeys-Dietz综合征的特征中的至少一种,并且3名成年人的特征符合马芬综合征的根特标准。七例患者没有双裂小舌、,裂,颅突狭窄,过度玻璃体增生或全身性动脉曲折。在这些患者中,两名符合根特标准,五名主动脉夹层,其中两名主动脉最大尺寸小于5.0厘米。

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