Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms/dissections, along with various manifestations of the ocular and skeletal systems. Due to the genetic and clinical heterogeneity, the clinical diagnosis of this disorder is challenging. Loss‐of‐function mutations in FBN1 (encodes fibrillin‐1) lead to MFS type 1. Also, similar mutations in transforming growth factor β receptor 2 (TGFBR2) gene cause MFS type 2. Both proteins involve in TGF‐β signaling.

中文翻译：

---

在七个疑似马凡氏综合征的伊朗家庭中，在FBN1和TGFBR2中鉴定出三个新变体。

马凡氏综合症（MFS）是结缔组织的多系统常染色体显性遗传疾病，其特征是胸壁动脉瘤/解剖的早期发展以及眼部和骨骼系统的各种表现。由于遗传和临床异质性，这种疾病的临床诊断具有挑战性。FBN1（编码原纤维蛋白-1）的功能丧失突变导致MFS类型1。此外，转化生长因子β受体2（TGFBR2）基因的类似突变也导致MFS类型2。这两种蛋白均参与TGF-β信号传导。