Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader–Willi syndrome: insights from a frameshift variant

Key Points

• Pubertal disorders exhibit different epigenetic profiles linked to mkrn3 variants, emphasizing their biological significance.
• A frameshift variant in mkrn3 is associated with central precocious puberty, revealing key genetic insights into the condition.
• The analysis reveals distinct biological pathways involved in both central precocious puberty and Prader-Willi syndrome's epigenetic landscape.
• This study highlights the need for further exploration into mkrn3-related mechanisms, particularly for targeted interventions.