The first report of c.4408T>C mutation on FBN1 gene in a case with Marfan Syndrome in Iran

  • Mehrad Mahdavi Sinamehr research center, Mazandaran University, Sari, Iran.
  • Mohsen Najafi Faculty of Medicine, Department of Medical Genetics, Islamic Azad University, Sari Branch, Sari, Iran
  • Amir Shamshirian Department of Medical Laboratory Sciences, Student Research Committee, School of Allied Medical sciences, Mazandaran University of Medical Sciences, Sari, Iran
  • Hossein Jalali Student Research Committee, Thalassemia Research Centre, Hemoglobinopathy institute, Mazandaran University of Medical Sciences, Sari, Iran
  • Mohammad Reza Mahdavi Thalassemia Research Centre, Hemoglobinopathy institute, Mazandaran University of Medical Sciences, Sari, Iran
Keywords: Fibrillin-1, Marfan syndrome, Ghent Criteria, Next generation sequencing

Abstract

Marfan syndrome (MFS) is a rare autosomal dominant genetic disorder and the mutations on fibrillin-1 (FBN1) gene are the main cause of the disease. The MFS is associated with complications in cardiovascular, ocular, and skeletal systems. A 34-year-old man with clinical manifestation of the MFS disorder was referred to the Genetic diagnostic laboratory for genetic analysis. The NGS (Next-generation sequencing) panel for neuromuscular diseases that analyzes 14 different genes were applied for the detection of the related mutation and the c.4408T>C mutation (p.Cys1470Arg) on FBN1 was detected in heterozygote state. The result was confirmed with Sanger sequencing method and the mutation was also detected in proband's mother and daughter. This is the first report of c.4408T>C mutation from Iran and Middle East. Genetic testing and specially NGS method is recommended to identify the mutations in individuals suspected of having MFS.

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Published
2019-03-25