Rare Diseases clustering based on structural regularities at the gene structure

Abstract

Rare Diseases (RDs) are conditions with a high spectrum of genetic origins, whose phenotypic impact could define specific metabolic disorders or complex congenital anomalies. Accordingly, It is possible to propose at the point of view of the structural-genomics, that RDs define critical changes at the genome structure, which affect the cells functionality but not its viability. Herein, we present a bioinformatics approach for the identification of regularities among RDs related genes, which include the exploration of these genes at the map of the human genome reference, and its structural description considering the promoter regions. This approach allows us to identify structural regularities among RD genes, mainly related with the promoter regions, where the organization of genomic elements like CpG islands, and short repeats, allows an informative RDs clustering; that's mean nodes with functional and phenotypic meaning. For example, we present common regularities among RDs genes, which functionally are related to an immunological impact, and phenotypically with related syndromes: hyperimmunoglobulin E syndrome, Hyperimmunoglobulin E-recurrent infection syndrome, Job syndrome, and others. Based on our findings, we present an approximation for an integrative description of RDs, based on a basic structural-genomic overview.