Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
Authors' conclusion
Novel loss-of-function mutations in DLK1 gene were identified in 2 French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.
Study context
- Population
- French children with idiopathic central precocious puberty (CPP); healthy children at puberty; wild-type female mice121 index cases
- Exposure
- Idiopathic CPP vs Healthy children
- Healthy childrenn = 191reference
- Outcome
- Rare pathogenic DLK1 allelic variants
Methodological detailscohort, animal (mouse) component
- Cohort
- Animal (mouse) component
Main finding
As reported in the abstract
- Rare pathogenic DLK1 variants identified (stop gain c.372C>A; p.Cys124X and start loss c.2T>G; p.Met1?, or p.0) in French girls with CPP
- 2
Observational data: associations, not effects.
Further findings
Mean serum DLK1 levels (enzyme linked immunosorbent assay (ELISA))
- Mean serum DLK1 levels were similar between healthy children and idiopathic CPP children
- Measured in 209 individuals
Serum DLK1 by pubertal stage in healthy individuals
- Girls: DLK1 decreased between Tanner stages III and V
- P = 0.008
- Boys: DLK1 decreased between Tanner stages II and V
- P = 0.016
Serum Dlk1 in wild-type female mice during pubertal maturation
- Serum Dlk1 decreased in wild-type female mice
Original publication
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels. Eur J Endocrinol. Published 13 September 2023. doi:10.
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