ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

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

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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