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Open Access Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing

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This article is Open Access under the terms of the Creative Commons CC BY-NC licence.

Objective: The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome (MFS) or incomplete MFS phenotypes.

Methods: Three unrelated patients with a definite or suspected clinical diagnosis of MFS and their family members were recruited for research. Genomic DNA was extracted from peripheral blood of these patients and their family members. All the exons were sequenced by next-generation sequencing and the variants were further validated by Sanger sequencing. The functional consequences of the mutations were analyzed with various genomic resources and bioinformatics tools.

Results: Three FBN1 mutations were identified in the three patients, including one novel mutation (2125G > A) and two previously reported mutations (4786C > T and 6325C > T). It was interesting to note that the parents of these patients were normal as assessed by clinical features or genetic testing, but all these mutations were detected in their offspring, except for the variant 6325C > T. We also found that a few young members of the family of probands (proband 1 and proband 2) have exhibited no manifestations of MFS so far, although they carry the same disease-causing mutation.

Conclusions: We found three FBN1 mutations in three unrelated Chinese families with MFS by genome sequencing, and the relationship between genotypes and phenotypes in MFS patients needs further exploration.

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Keywords: FBN1; Marfan syndrome; Whole-exome sequencing

Document Type: Research Article

Affiliations: 1: Department of Cardiology, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, P. R. China 2: Academy of Chinese Medical Sciences, Henan University of Chinese Medicine, Zhengzhou, Henan 450046, P. R. China 3: College of Life Sciences, Zhengzhou University, Zhengzhou, Henan 450000, P. R. China 4: Sino-British Research Center for Molecular Oncology, National Center for the International Research in Cell and Gene Therapy, School of Basic Sciences, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, Henan 450052, P. R. China

Publication date: September 1, 2020

This article was made available online on June 18, 2020 as a Fast Track article with title: "Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing".

More about this publication?
  • Cardiovascular Innovations and Applications (CVIA) publishes focused articles and original clinical research that explore novel developments in cardiovascular disease, effective control and rehabilitation in cardiovascular disease, and promote cardiovascular innovations and applications for the betterment of public health globally. The journal publishes basic research that has clinical applicability in order to promote timely communication of the latest insights relating to coronary artery disease, heart failure, hypertension, cardiac arrhythmia, prevention of cardiovascular disease with a heavy emphasis on risk factor modification. Cardiovascular Innovations and Applications is the official journal of the Great Wall International Congress of Cardiology (GW-ICC). It aims to continue the work of the GW-ICC by providing a global scientific communication platform for cardiologists that bridges East and West.

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