Özet:

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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