Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study
Authors' conclusion
We identified rare MECP2 variants in girls with central precocious puberty, with or without mild neurodevelopmental abnormalities. MECP2 might have a role in the hypothalamic control of human pubertal timing, adding to the evidence of involvement of epigenetic and genetic mechanisms in this crucial biological process.
Study context
- Population
- Patients with idiopathic central precocious puberty (progressive pubertal signs before age 8 years in girls and 9 years in boys, pubertal LH), Brazil, Spain, France, USA and UK; 383 girls, 21 boys; 261 sporadic, 143 familial
- Participants
- 404 patients
- Outcome
- Rare potentially damaging variants in the MECP2 gene
Methodological detailsmulticentre, seven tertiary centres in five countries, Enrolled Jun 15, 2020, to Jun 15, 2022, High-throughput sequencing in 133 patients and Sanger sequencing of MECP2 in an additional 271 patients
- Multicentre
- Seven tertiary centres in five countries
- Enrolled Jun 15, 2020, to Jun 15, 2022
- High-throughput sequencing in 133 patients and Sanger sequencing of MECP2 in an additional 271 patients
Main finding
As reported in the abstract
Rare heterozygous likely damaging coding MECP2 variants
- Three rare heterozygous likely damaging coding MECP2 variants identified, in girls
- 5
- De novo missense Arg97Cys in monozygotic twin sisters with central precocious puberty and microcephaly
- 2
- De novo missense Ser176Arg in a girl with sporadic central precocious puberty, obesity and autism
- 1
- Insertion Ala6_Ala8dup in unrelated girls with sporadic central precocious puberty
- 2
- Rare heterozygous 3'UTR MECP2 insertion (36_37insT) in unrelated girls with sporadic central precocious puberty
- 2
Observational data: associations, not effects.
Further findings
Mecp2 expression in mouse hypothalamus
- Mecp2 protein colocalised with GnRH expression in hypothalamic nuclei responsible for GnRH regulation in mice
Original publication
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study. Lancet Diabetes Endocrinol. Published 26 June 2023. doi:10.
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