ArticleEuropean journal of endocrinology2023
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
Article in European journal of endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 16 citations in OpenAlex.
- Dlk1-deficient mice achieve puberty despite low body weight and low levels of leptin and kisspeptin.Journal of neuroendocrinology · 2026Article
- Distinguishing central precocious puberty from nonprogressive breast development: adiposity and DXA body composition.Journal of the Endocrine Society · 2026Article
- Article
- The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.Hormone research in paediatrics · 2026Article
- Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant.Therapeutic advances in endocrinology and metabolism · 2026Article
- Polycystic ovary syndrome and idiopathic central precocious puberty: two sides of the same coin?Endocrine · 2025Review
- Dual Role of DLK1 in GnRH Neuron Ontogeny.Stem cell reviews and reports · 2025Article
- Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.Cardiovascular endocrinology & metabolism · 2025Review
- Serum DLK1 During Minipuberty and Pubertal Transition in Healthy Girls and in Girls With Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2025Article
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Prevalence of organic central precocious puberty in males: criteria for a high index of suspicion.Endocrine connections · 2025Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Clinical and Genetic Mechanisms in Patients with <italic>MC2R</italic> Deficiency Presenting with Early Puberty.Hormone research in paediatrics · 2025Article
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
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Authors and funding
16 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundSeveral rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP).
objectiveWe investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy children at puberty, as well as in wild-type female mice. PATIENTS AND
methodsGenomic DNA was obtained from 121 French index cases with CPP. Automated sequencing of the coding region of the DLK1 gene was performed in all cases. Serum DLK1 levels were measured by enzyme linked immunosorbent assay (ELISA) in 209 individuals, including 191 with normal pubertal development and in female mice during postnatal pubertal maturation.
resultsWe identified 2 rare pathogenic DLK1 allelic variants: A stop gain variant (c.372C>A; p.Cys124X) and a start loss variant (c.2T>G; p.Met1?, or p.0) in 2 French girls with CPP. Mean serum DLK1 levels were similar between healthy children and idiopathic CPP children. In healthy individuals, DLK1 levels correlated with pubertal stage: In girls, DLK1 decreased between Tanner stages III and V, whereas in boys, DLK1 decreased between Tanner stages II and V (P = .008 and .016, respectively). Serum levels of Dlk1 also decreased in wild-type female mice.
conclusionsNovel 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.