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Article

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

World journal of pediatrics : WJP - 1 Feb 2026

Jin Yu-Yu, Wang Xiao, Yang Lin, Mu Jian, Luo Fei-Hong

Abstract excerpt

BACKGROUND: MKRN3 gene loss-of-function mutations cause central precocious puberty (CPP), whereas its deletion in Prader-Willi syndrome (PWS) paradoxically leads to hypogonadism. The mechanistic basis for these opposing reproductive phenotypes remains largely unclear. METHODS: We performed whole-exome sequencing in 98 Chinese CPP patients along with a systematic review of previously reported MKRN3 pathogenic and...

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Topics

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Share to DNA Methylation
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Frameshift Mutation

Share to Prader-Willi Syndrome

Share to Puberty, Precocious

Share to Ribonucleoproteins

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 41642464
DOI: 10.1007/s12519-026-01017-6

Genes

MKRN3
IGSF10
MAGEL2
PTH1R
PTPA
SH3RF3
ZC3H18

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.PMID 41642464Read ↗

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