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Clinica Chimica Acta： 10年单中心对马凡氏综合征(MFS)的研究结果

2020-03-19 MedSci原创 MedSci原创

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马凡氏综合征(MFS)是一种慢性、但会危及生命的常染色体显性连接组织疾病，其病因由编码为纤颤蛋白1的FBN1基因突变引起。所有的器官系统均可能受到影响，尤其是心血管系统、眼睛和骨骼。

马凡氏综合征(MFS)是一种慢性、但会危及生命的常染色体显性连接组织疾病，其病因由编码为纤颤蛋白1的FBN1基因突变引起。所有的器官系统均可能受到影响，尤其是心血管系统、眼睛和骨骼。通常由心血管并发症引起死亡，主要是主动脉夹层。目前，MFS的诊断仍基于修订的根特神经病学。FBN1基因的分子分析降低了疑似MFS或MFS相关疾病(MFS- rd)患者的诊断不确定性。迄今为止，已知有超过2700个FBN1突变。

使用下一代测序（NGS），然后对NGS阴性样品进行多重连接依赖性探针扩增，我们筛选了2008年至2018年在罗马Tor Vergata医院的多学科Marfan诊所接受治疗中招募的124例独立不相关患者（符合修订的Ghent标准的101 MFS，20名疑似MFS，3 MFS-RD）的FBN1基因。

研究结果显示，在107/124例(86.3%)患者中发现了FBN1变异，包括48个新变异(46个致病性/可能致病性，2个VUS)。在90/101 (89.1%)MFS患者中检测到致病性/可能致病性变异。我们的方法可以为10位年轻患者(年龄3-19 年)与MFS疑似病例提供早期诊断。

本研究拓宽了FBN1的突变谱，全面更新了意大利MFS的分子基础。

原始出处：

Liliana Mannucci，Serena Luciano，Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience

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    2020-08-15 1249894fm84暂无昵称

    #研究结果#

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    2020-07-11 windight

    #CTA#

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    2020-03-21 zhouqu_8

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