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MECP2 Rare Variants in Boys With Central Precocious Puberty.

Ana P M Canton1, Jacobo B Mebarak2,3, Jordan E Read4

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Summary

Rare MECP2 variants were found in boys with central precocious puberty (CPP), suggesting a role for this epigenetic factor in pubertal timing. This expands the known association of MECP2 variants with CPP beyond girls.

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MECP2X-linked precocious pubertycentral precocious pubertygenetics of puberty

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Area of Science:

  • Genetics
  • Endocrinology
  • Neurodevelopmental disorders

Background:

  • Central precocious puberty (CPP) has genetic and epigenetic influences.
  • MECP2 gene variants are linked to neurodevelopmental disorders and sometimes early puberty.
  • MECP2 variants have been previously identified in girls with CPP.

Purpose of the Study:

  • Investigate potential MECP2 variants in boys with idiopathic CPP.
  • Determine the role of MECP2 in the hypothalamic control of pubertal timing.

Main Methods:

  • MECP2 DNA sequencing in ten boys with idiopathic CPP.
  • Screening for coding variants using exome and Sanger sequencing.
  • Assessing MECP2 protein levels in a GnRH neuronal cell line.

Main Results:

  • Identified two hemizygous missense MECP2 variants in two unrelated boys with sporadic CPP.
  • One boy presented with CPP, speech delay, and autism; the other with CPP only.
  • Both identified MECP2 variants showed reduced protein levels, suggesting a deleterious effect.

Conclusions:

  • Rare MECP2 variants are associated with CPP in boys, similar to findings in girls.
  • MECP2, an epigenetic factor, plays a role in the hypothalamic regulation of pubertal timing.
  • These findings expand the understanding of genetic factors contributing to CPP.