Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty
Authors' conclusion
Pathogenic variants in the regulatory region of MKRN3 gene are rare and can be associated with the CPP phenotype.
Study context
- Population
- Children with familial or idiopathic CPP (205 girls, 12 boys; 143 sporadic, 74 familial cases); rare potentially pathogenic coding-region variants of MKRN3 and DLK1 previously excluded
- Participants
- 217 children
- Outcome
- Pathogenic allelic variants in the regulatory regions of MKRN3 and DLK1 genes
Methodological detailsSanger sequencing, in silico prediction
- Sanger sequencing
- In silico prediction
Main finding
As reported in the abstract
Heterozygous variant c.-265G>A (previously associated with CPP) in MKRN3 promoter, in girls from two unrelated families
3 girls
Further findings
- MKRN3 serum levels range
- 197.5 pg/mL to 1,907 pg/mL
- Relatively lower in CPP patients carrying c.-265G>A
Original publication
Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty. Horm Res Paediatr. Published 20 December 2024. doi:10.
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