Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2023, Vol. 37 ›› Issue (2): 98-103.doi: 10.6040/j.issn.1673-3770.0.2022.207

• 论著 • Previous Articles    

Analysis of a new-onset FBN1 gene mutation in a patient with Marfan syndrome

ZHAO Shuang1, ZHAO Jun2, XUE Youyu2, ZHANG Juanmei2   

  1. 1. Graduate Department, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250000, Shandong, China;
    2. Department of Ophthalmology, Linyi People's Hospital, Linyi 276000, Shandong, China
  • Published:2023-03-30

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Abstract: Objective To identify the genetic etiology, sequencing analysis of the causative gene was performed in a child with a clinical diagnosis of Marfan syndrome. Methods Genomic DNA was extracted from the peripheral blood samples of the proband and his parents for whole exome sequencing analysis; the suspected loci were then verified using Sanger sequencing. The pathogenicity of the variants was assessed according to the guidelines issued by the American College of Medical Genetics and Genomics(ACMG), and predictive analysis was performed using REVEL-a bioinformatics software for the comprehensive prediction of the pathogenicity of missense variants. Results The results of whole exome sequencing analysis showed that the FBN1 gene was associated with the c. 4016G > T(p.C1339F)heterozygous missense mutation in the child. Results of Sanger sequencing showed that his parents had no variation at this locus and exhibited spontaneous mutations. According to the ACMG guidelines, this variant was tentatively determined to be a pathogenic variant. REVEL predicted the missense variant as harmful, and SIFT, PolyPhen 2, Mutation Taster, and GERP + predicted it to be deleterious. Conclusion The c.4016G > T(p.C1339F)heterozygous mutation in the FBN1 gene may be the cause of the disease in our patient with Marfan syndrome; this new variant further expands the FBN1 variant spectrum.

Key words: Marfan syndrome, FBN1 gene, Heterozygous mutation, Genes mutation, Whole exome sequencing

CLC Number: 

  • R596.1
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[1] ZHAO Lianghui, CAI Tao, DU Xianli. Mutation analysis of ZEB1 in a pedigree with keratoconus [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2021, 35(2): 98-104.
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