Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed. Thus, we conclude that genetic testing is important to identify patients at higher risk for developing life-threatening cardiovascular complications.

中文翻译：

---

乌克兰马凡氏综合征患者中FBN1基因突变的鉴定。

马凡氏综合症是常染色体显性遗传性结缔组织疾病，主要影响眼，骨骼和心血管系统。在这里，我们介绍了40名乌克兰马凡（-样）患者和10名亲属的首次基因检测结果。我们应用了包含FBN1和13个胸主动脉瘤基因的下一代靶向测序小组。我们在FBN1中鉴定了27个因果突变，获得67·5％的突变率。观察到突变阳性和阴性患者在主动脉手术时的年龄存在显着差异。因此，我们得出结论，基因检测对于确定罹患威胁生命的心血管并发症的高风险患者很重要。