Distinct studies have shown the participation of (epi)genetic mechanisms in the human pubertal control. The recognition of genetic causes of central precocious puberty (CPP) have increased, especially with the identification of mutations in two imprinted genes (MKRN3 and DLK1) in familial cases of non-syndromic CPP. Both genes are located at critical regions of (epi)genetic syndromes known to have CPP in their clinical spectrum (Prader-Willi syndrome and Temple syndrome, respectively). Other congenital etiologies might be elucidated based on an integrative clinical-genetic approach. The purpose of this project is to investigate patients with syndromic CPP with or without central nervous system lesions through high resolution and large-scale genetic studies and to elucidate possible genes/loci implicated in the human puberty. MECP2 is an X-linked gene playing a role in the transcription regulation of multiple genes relevant for the neurologic development. MECP2 loss-of-function mutations are usually associated with neurodevelopmental disorders, mainly with Rett syndrome. The typical Rett syndrome is characterized by regression of the neuropsychomotor acquired skills. Early pubertal development has been demonstrated in girls with Rett syndrome. In this context, this project proposes the genetic investigation of MECP2 gene in patients with CPP.
News published in Agência FAPESP Newsletter about the scholarship: