ea0086p343 | Neuroendocrinology and Pituitary | SFEBES2022
E Read Jordan
, Pinheiro-Machado Canton Ana
, Tinano Flavia
, Guasti Leonardo
, Ribeiro Montenegro Luciana
, Ryan Fiona
, Shears Deborah
, Paganoni Alyssa
, Korbonits Marta
, Jorge Alexander
, David Alessia
, Bilharinho Mendonca Berenice
, Nahime Brito Vinicius
, Claudia Latronico Ana
, Howard Sasha R
Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...