Journal of Medical Molecular Biology ›› 2025, Vol. 22 ›› Issue (4): 311-318.doi: 10.3870/j.issn.1672-8009.2025.04.002

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Identification and Validation of Pathogenic Variants in FBN1 Gene for 7 Patients with Marfan Syndrome #br# #br#

  

  1. 1Department of Cardiovascular Surgery, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, 450014, China 2Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, 450052, China 3Center for Medical Experiment, the Second Clinical Medical School of Zhengzhou University, Zhengzhou, 450014, China
  • Online:2025-07-31 Published:2025-07-18

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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.


Key words:

Marfan syndrome, fibrillin-1, FBN1 gene, gene test, mutation


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