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

Abstract: Objective Seven patients with Marfan syndrome (MFS) were screened for pathogenic 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 andthen subjected to whole-exome sequencing. The candidate variants were validated, and their pathogenicity was interpreted. Results FBN1 (NM_ 000138. 5) gene variants were found in all sevenpatients, including 5 previously reported variants [ c. 367T > C ( p. Cys123Arg), c. 2093C > T(p. Pro698Leu), c. 7532 G > A (p. Cys2511Tyr), c. 6815 A > 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 above 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.

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