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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

机译：马凡综合征谱系中新型因果FBN1突变的鉴定。

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Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.
机译：马凡氏综合症（MFS）是结缔组织的常染色体显性遗传疾病，通常表现为心血管表现，瓣膜脱垂，左心室扩大和心力衰竭。 Fibrillin-1（FBN1）是MFS发病机理的致病基因。具有不同FBN1突变的患者通常表现出更大的表型变异。在本研究中，收集了三个受影响的MFS谱系进行遗传分析。使用下一代测序（NGS）技术，鉴定了3个新的移码病原体突变，它们与3个家系中的受影响受试者共分离。这些新颖的突变为MFS中的精密医学提供重要的诊断和治疗见解，尤其是在致死性心血管事件方面。

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