Report of two Marfan patients in Iranian population: application of next generation sequencing

Introduction: Marfan syndrome is a rare genetic disorder with an autosomal dominant pattern of inheritance. The disease is caused by the mutation of the FBN1 gene. In this study, two Iranian patients with Marfan syndrome are reported due to mutations in the gene.Materials and methods: Clinical evaluations and cardiac examinations were performed. Genetic testing was carried out. NGS gene panel of Marfan syndrome and Marfan-like syndromes were done for the patients. In silico analyses was performed for pathogenicity prediction of the variant using available software tools such as MutationTaster, Provean, SIFT and polyphen-2.Results: clinical evaluations were consistent with Marfan syndrome. Two pathogenic variants was found in our patients including c.18897C> T and c.7783G> A. In silico analyses predicted that these mutations are probably pathogenic. Discussion: NGS gene panel tests could be helpful to find the causal variants in Marfan-like syndromes. FBN1 mutations may be common among our population.

کلیدواژه ها:

Marfan syndrome ، NGS ، FBN1 ، Bioinformatics