ISSN: 2147-2092
The first report of c.4408T>C mutation on <i>FBN1</i> gene in a case with Marfan Syndrome in Iran
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Case Report
VOLUME: 30 ISSUE: 2
P: 217-219
April 2019

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

GMJ 2019;30(2):217-219
DOI: 10.12996/gmj.2019.56
Mehrad Mahdavi 1
Mohsen Najafi 2
Amir Shamshirian 3
Hossein Jalali 4
Mohammad Reza Mahdavi 5
1. Sinamehr Research Center, Mazandaran University, Sari, Iran
2. Faculty of Medicine, Department of Medical Genetics, Islamic Azad University, Sari Branch, Sari, Iran
3. Department of Medical Laboratory Sciences, Student Research Committee, School of Allied Medical Sciences, Mazandaran University of Medical Sciences, Sari, Iran
4. Student Research Committee, Thalassemia Research Centre, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran
5. Thalassemia Research Centre, Hemoglobinopathy institute, Mazandaran University of Medical Sciences, Sari, Iran
No information available.
No information available
Received Date: 02.01.2019
Accepted Date: 08.03.2019
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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 (Nextgeneration 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.