Analysis of the MKRN3 gene in children with familial or sporadic central precocious puberty

Abstract

Inactivating mutations of the MKRN3 gene are the most prevalent genetic cause of central precocious puberty. The relationship between mutations in this gene and CPP is due to changes in other hormonal pathways, such as kisspeptin and neurokinin B, which culminate in the early reemergence of GnRH peaks. Considering the prevalence and mechanisms of action, the analysis of the MKRN3 gene is the first step in the genetic investigation of patients with CPP. In this study, we will seek to identify the presence of variants specifically of the MKRN3 gene in new patients treated at the HC/FMUSP complex with CPP without changes in imaging tests. This will be done by DNA extraction from blood samples, PCR amplification and Sanger sequencing. Finally, the variants will be classified according to their pathogenicity and patients without variants will compose a sample group for further research, aiming to identify other genes that may be affected.