The development of molecular biology techniques to evaluate candidate genes by sequencing Sanger followed by the analysis of the translated region from all exons in the human genome (exoma) for large-scale sequencing (SELE) led to increasing molecular diagnosis on the research of genetic disease. The Sanger sequencing method allowed us to determine in our cohort the molecular diagnosis in about 10% of patients with pituitary disorders in follow up at the development unit in the Endocrinology Clinic. Using SELE, we have identified one new gene potentially involved in the pituitary development disorder (CDH2). According to the guidelines for investigating the causal variants in the genome sequence and its association with human disease, published by the US National Institute for Human Genome Research, the strength of the correlation between the findings of an allelic variant and the phenotype of the patient is done through the genetic evidence and experimental level. In the first, it is fundamental the presence of variants in one gene in unrelated patients and in the second, the causal association of this variant in the functional context. Therefore, this project aims to analyze, via sequencing Sanger, patients with hypopituitarism in the search for allelic variants in CDH2 gene and who may be responsible or be associated with pituitary hormone deficiency.
News published in Agência FAPESP Newsletter about the scholarship: