Identificación de nuevas variantes genotípicas del Síndrome de Marfan. Un estudio de caso

Abstract

Marfan syndrome is one of the fibrinogenic disorders that modify the structuring proteins of the connective tissue when presenting mutations in the FBN1 gene causing disorders that are usually hereditary. The diversity of genetic variants that can present this gene makes difficult the diagnosis of the disease; Therefore, this research aimed to perform a study of a family group with characteristics similar to the syndrome in order to identify more genotypic variants that influence the expression of phenotypes compatible with Marfan to include in the diagnosis patients with features Mild disease; For this, a molecular analysis was made, starting from the DNA extraction with the technique Salting out. The samples obtained were sequenced using the new generation mass sequencing (NGS) method in the Illumina 1.9 platform, which allowed to obtain the sequences of the study group. The sequences were obtained a bioinformatic analysis to relate the resulting genetic variants with the Marfan Syndrome by means of tools like: FastQc of quality analysis, Bowtie2 for sequence mapping, SamTools for the call of variants, BLASTn for comparison Of the sequences obtained with what is reported in the databases; Finally, BLASTx was used to observe whether the proteins encoded by said sequences have similar changes to Marfan's disease. Obtaining the location of 5 variants between transitions and tranversions not reported in the OMIM database, one of this is found in the whole family group. When giving the protein reading was verified the existence of a change in the coding of the protein given by FBN1 which may explain the phenotypic features characteristic of Marfan that the family expressed.