Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.

ABSTRACT:

Background

Identification of genetic causes of central precocious puberty have revealed epigenetic mechanisms as regulators of human pubertal timing. MECP2, an X-linked gene, encodes a chromatin-associated protein with a role in gene transcription. MECP2 loss-of-function mutations usually cause Rett syndrome, a severe neurodevelopmental disorder. Early pubertal development has been shown in several patients with Rett syndrome. The aim of this study was to explore whether MECP2 variants are associated with an idiopathic central precocious puberty phenotype.

Methods

In this translational cohort study, participants were recruited from seven tertiary centres from five countries (Brazil, Spain, France, the USA, and the UK). Patients with idiopathic central precocious puberty were

SUBMITTER: Canton APM 

PROVIDER: S-EPMC7615084 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature