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首页> 外文期刊>Circulation. Genomic and precision medicine. >FBN1 Coding Variants and Nonsyndromic Aortic Disease
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FBN1 Coding Variants and Nonsyndromic Aortic Disease

机译：FBN1编码变异和Nonsyndromic主动脉疾病

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Marfan syndrome (MFS) is an autosomal dominant disorder caused by pathogenic variants in FBN1. Associated cardiovascular features include mitral valve prolapse, ascending aortic dilatation, and aortic dissection. The estimated prevalence of MFS and suspected MFS is one per 5000 individuals,1 but the frequency and significance of underlying pathogenic FBN1 variants in the general population has not been reported. We examined the clinical phenotypes of PennMedicine BioBank participants carrying any of 12 canonical MFS variants in FBN1: V449I, R976H, G1013R, R1170H, P1424A, M1576T, C1672R, T1908I, I2185T, T2520M, I2585T, and G2618R. These variants were chosen because they were among the first FBN1 variants reported for MFS; although the phenotypic features associated with some of these variants are not sufficient to diagnose MFS by current criteria, each variant has been associated with MFS-related phenotypes. PennMedicine BioBank is a longitudinal genomic medicine cohort in which participants consent to linkage of biospecimens with electronic health record data and is approved by the University of Pennsylvania Institutional Review Board. Seventy carriers of the 12 FBN1 variants we chose to investigate were identified among 10996 participants who underwent whole exome sequencing and passed quality control, including pruning for cryptic relatedness (n > 0.125; third-degree relatives).2 Of the 12 variants, 6 were present in only one individual (C1672Y, G1013R, I2185T, T1908I, T2520M, and I2585T). The remainder were more common, including R1170H, which was present in 40 participants (Table).
机译：马凡氏综合症(MFS)是一种常染色体显性遗传障碍在FBN1致病变种引起的。相关的心血管功能包括二尖瓣瓣脱垂、升主动脉扩张主动脉夹层。MFS和疑似MFS是每5000人之一1个人,但频率和意义潜在的致病性FBN1变体一般人没有被报道。检查PennMedicine的临床表型生物参与者携带任何12规范MFS variants in FBN1: V449I R976H G1013R,R1170H P1424A、M1576T C1672R T1908I I2185T,T2520M、I2585T G2618R。选择,因为他们是第一批FBN1变体MFS的报道;与这些相关表型特征诊断MFS的变体是不够的目前的标准,每一个变体与MFS-related表型有关。PennMedicine生物是一个纵向的基因组医学组的参与者同意连杆与电子健康biospecimens记录数据和大学的批准宾夕法尼亚州的机构审查委员会。我们选择运营商的12 FBN1变体调查发现在10996年参与者接受了全外显子组测序并通过质量控制,包括修剪神秘的亲缘(n > 0.125;亲戚)。2在只有一个个体(C1672Y G1013R, I2185T,T1908I、T2520M I2585T)。更常见的,包括R1170H,礼物在40个参与者(表)。

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