Integration of Bioinformatics in the Clinical and Genomic Characterization of Retinitis Pigmentosa, Noonan Syndrome and Martin-Probs Mental Retardation Syndrome, in the Same Individual. Case repor

Abstract

Introduction: Advances in bioinformatics techniques have allowed approaches and improvements in clinical diagnoses, correlating genotype - phenotype and allowing the approach to personalized therapy. Objective: Inorder to perform the molecular characterization and gene expression in a patient with complex clinical manifes-tations through bioinformatics techniques, complete exome sequencing was performed by a peripheral bloodsample to a woman with facial dysmorphisms and developmental disorders. Material and methods: We analyzedthe data obtained by in-silico analysis, using programs such as SIFT, Mutation Tester, UMD and Provean, to de-termine the clinical significance of the found variants and GeneMania program was used to determine gene inte-ractions. Results: 3 variants were found in the genes SEMA4A, PTPN11 and RAB40A, associated with Retinitis pigmentosa 35, Noonan Syndrome and Mental Retardation Syndrome Martin-Probs, respectively; according tothe predictive softwares, in the first case an apparently benign clinical meaning, and in the last two genes a clinicalpathogenic meaning. The analysis of gene networks revealed alterations in biological functions such as signalingmediated by phosphatidylinositol, response to the fibroblastic growth factor, neutrophin signaling pathway and blood vessel morphogenesis that allowed us to explain a large part of the observed symptomatology. Conclusion: The personalized analysis of complex pathologies through the use of clinical, genomic and bioinformatic tool shas allowed a signifi cant advance in techniques for processing and analyzing data, benefi ting scientifi c studies thatallow the approach to a correct diagnosis and adequate genetic counseling.