Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpression
Authors' conclusion
Paternally derived 15q11.2-q13 duplications are associated with MKRN3 overexpression and delayed pubertal maturation.
Study context
- Population
- Patients with confirmed paternal 15q11.2-q13 duplications
- Participants
- 4 patients
- Exposure
- MKRN3 expression in patients with paternal 15q11.2-q13 duplication vs Tanner and sex-matched controls
- Patientsn = 4
- Outcome
- MKRN3 expression (RT-qPCR, peripheral blood) and pubertal phenotype
Methodological detailsGenetic characterization by MS-MLPA, array-CGH, and whole-exome sequencing when possible
- Genetic characterization by MS-MLPA, array-CGH, and whole-exome sequencing when possible
Main finding
As reported in the abstract
- Duplications involving 15q11.2-q13 with confirmed paternal origin
- All patients
- Increased MKRN3 expression
- 3 of 4 patients
- Longitudinal data: MKRN3 expression remained elevated vs controls at both timepoints
- 1 patient
- PROKR2 variant may have contributed to phenotype
- 1 case
Observational data: associations, not effects.
Original publication
Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpression. J Clin Endocrinol Metab. Published 18 September 2026. doi:10.
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