Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome

Min Rou Lin, Che Mai Chang, Jafit Ting, Jan Gowth Chang, Wan Hsuan Chou, Kuei Jung Huang, Gloria Cheng, Hsiao Huang Chang, Wei Chiao Chang

Research output: Contribution to journalArticlepeer-review

Abstract

Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple genetic mutations have been reported, data from Asian populations are still limited. As a result, we utilized the whole exome sequencing (WES) technique to identify potential pathogenic variants of MFS in a Taiwan cohort. In addition, a variety of annotation databases were applied to identify the biological functions as well as the potential mechanisms of candidate genes. In this study, we confirmed the pathogenicity of FBN1 to MFS. Our results indicated that TTN and POMT1 may be likely related to MFS phenotypes. Furthermore, we found nine unique variants highly shared in a MFS family cohort, of which eight are novel variants worthy of further investigation.

Original languageEnglish
Article number198
JournalJournal of Personalized Medicine
Volume12
Issue number2
DOIs
Publication statusPublished - Feb 2022

Keywords

  • FBN1
  • Marfan syndrome
  • New mutations
  • POMT1
  • TTN
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Medicine (miscellaneous)

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