ArticleThe Journal of clinical endocrinology and metabolism2017
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers.
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Who cites it
110 citing papers in PubMed, 213 citations in OpenAlex.
- Obesity, Oxidative Stress, and Inflammation in Precocious Puberty: Do All Roads Lead to the Hypothalamus?International journal of molecular sciences · 2026Review
- Dlk1-deficient mice achieve puberty despite low body weight and low levels of leptin and kisspeptin.Journal of neuroendocrinology · 2026Article
- Association Study BetweenInternational journal of molecular sciences · 2026Article
- Article
- Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort.Hormone research in paediatrics · 2026Article
- MECP2 Rare Variants in Boys With Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2026Article
- Development and evaluation of a predictive model for central precocious puberty in girls.Translational pediatrics · 2026Article
- 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
- Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factors.Frontiers in endocrinology · 2026Review
- Serum and serum-derived extracellular vesicle microRNA signatures linked to neurodevelopmental processes in central precocious puberty.Frontiers in endocrinology · 2026Article
- Genetic and Epigenetic Contributions to Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2025Article
- Metabolic sexual dimorphism in hypothalamic Fezf1 neuron-specific BDNF knockout.Biology of sex differences · 2025Article
- Dual Role of DLK1 in GnRH Neuron Ontogeny.Stem cell reviews and reports · 2025Article
- Steroid hormone-mediated epigenetic programming during puberty: uncovering links to depression.Epigenomics · 2025Review
- Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.Cardiovascular endocrinology & metabolism · 2025Review
- Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Molecular mechanism of Activin receptor inhibition by DLK1.Nature communications · 2025Article
- Mom genes and dad genes: genomic imprinting in the regulation of social behaviors.Epigenomics · 2025Review
- Impact of the COVID-19 pandemic on the incidence of central precocious puberty: A PRISMA-ScR-COMPLIANT scoping review.Archives of endocrinology and metabolism · 2025Article
50 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
Abstract
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified, with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole-genome sequencing was performed in a family with five female members with nonsyndromic CPP. Detailed phenotyping was performed at the time of initial diagnosis and long-term follow-up, and circulating levels of Delta-like 1 homolog (DLK1) were measured in affected individuals. Expression of DLK1 was measured in mouse hypothalamus and in kisspeptin-secreting neuronal cell lines in vitro. Setting: Endocrine clinic of an academic medical center. Patients: Patients with familial CPP were studied. Results: A complex defect of DLK1 (∼14-kb deletion and 269-bp duplication) was identified in this family. This deletion included the 5' untranslated region and the first exon of DLK1, including the translational start site. Only family members who inherited the defect from their father have precocious puberty, consistent with the known imprinting of DLK1. The patients did not demonstrate additional features of the imprinted disorder Temple syndrome except for increased fat mass. Serum DLK1 levels were undetectable in all affected individuals. Dlk1 was expressed in mouse hypothalamus and in kisspeptin neuron-derived cell lines. Conclusion: We identified a genomic defect in DLK1 associated with isolated familial CPP. MKRN3 and DLK1 are both paternally expressed imprinted genes. These findings suggest a role of genomic imprinting in regulating the timing of human puberty.
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Registered trials
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 Socratic graph.