医学分子生物学杂志2025，Vol.22Issue(4)：311-318,8.DOI:10.3870/j.issn.1672-8009.2025.04.002
7例马凡综合征患者的FBN1基因变异分析
Identification and Validation of Pathogenic Variants in FBN1 Gene for 7 Patients with Marfan Syndrome
摘要
Abstract
Objective Seven patients with Marfan syndrome(MFS)were screened for patho-genic variants in the fibrinogen-1(FBN1)gene to explore the relationship between MFS and FBN1 gene mutations.Methods Genomic DNA was extracted from the peripheral blood of 7 patients and then subjected to whole-exome sequencing.The candidate variants were validated,and their patho-genicity was interpreted.Results FBN1(NM_000138.5)gene variants were found in all seven patients,including 5 previously reported variants[c.367T＞C(p.Cys123Arg),c.2093C＞T(p.Pro698Leu),c.7532 G＞A(p.Cys2511Tyr),c.6815A＞G(p.Tyr2272Cys),(c.7279T＞C(p.Cys2427Arg)],1 novel variant[c.316C＞T(p.Gln106Ter)],and 1 first reported variant in Chinese[c.6354C＞T(p.Ile2118=)].According to the ACMG guidelines,six variants of a-bove were classified as pathogenic/likely pathogenic,and one variant was classified as a variant of uncertain significance.Conclusion The identification of novel pathogenic variants in the FBN1 gene expands the known mutational spectrum and provides insights into the genetic basis of MFS,which is crucial for clinical diagnosis and patient management.关键词
马凡综合征/原纤维蛋白-1/FBN1基因/基因检测/变异位点Key words
Marfan syndrome/fibrillin-1/FBN1 gene/gene test/mutation分类
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郭臣,卯甜甜,娜荷芽,许红恩,田永安,周玉阳,常新,柳丹华,高成山..7例马凡综合征患者的FBN1基因变异分析[J].医学分子生物学杂志,2025,22(4):311-318,8.基金项目
2021年河南省医学科技攻关计划联合共建项目(No.LHGJ20210413) This work was supported by a grant from the 2021 Program Project of the Henan Provincial Medical Science and Technology Research(No.LHGJ20210413) （No.LHGJ20210413）
