ArticleThe Journal of clinical endocrinology and metabolism2014
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 137 citations in OpenAlex.
- 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 · 2026Article
- Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factors.Frontiers in endocrinology · 2026Review
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.Journal of endocrinological investigation · 2024Article
- Hormonal Imbalances in Prader-Willi and Schaaf-Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals.International journal of molecular sciences · 2023Review
- Towards in vivo characterization of thyroid nodules suspicious for malignancy using multispectral optoacoustic tomography.European journal of nuclear medicine and molecular imaging · 2023Article
- Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.The Journal of clinical endocrinology and metabolism · 2023Article
- Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious PubertyJournal of clinical research in pediatric endocrinology · 2023Article
- MKRN3 role in regulating pubertal onset: the state of art of functional studies.Frontiers in endocrinology · 2022Review
- Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty.Frontiers in endocrinology · 2022Review
- Genetic causes of central precocious puberty.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Review
- Methylation status of hypothalamicFrontiers in endocrinology · 2022Article
- Diagnosis and management of precocious sexual maturation: an updated review.European journal of pediatrics · 2021Review
- Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.Clinical endocrinology · 2021Review
- Familial central precocious puberty: two novel MKRN3 mutations.Pediatric research · 2021Article
- Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome.Journal of neuroendocrinology · 2021Review
- Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.The Journal of clinical endocrinology and metabolism · 2021Article
- Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.International journal of molecular sciences · 2021Review
- Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.Frontiers in endocrinology · 2021Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 5 institutions in 2 countries.
Funding
Abstract
contextLoss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause of familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion.
objectivesThe objective of the study was to investigate potential MKRN3 sequence variations as well as copy number and methylation abnormalities of the 15q11 locus in patients with apparently sporadic CPP. SETTING AND
participantsWe studied 215 unrelated children (207 girls and eight boys) from three university medical centers with a diagnosis of CPP. All but two of these patients (213 cases) reported no family history of premature sexual development. First-degree relatives of patients with identified MKRN3 variants were included for genetic analysis.
main outcome measuresAll 215 CPP patients were screened for MKRN3 mutations by automatic sequencing. Multiplex ligation-dependent probe amplification was performed in a partially overlapping cohort of 52 patients.
resultsWe identified five novel heterozygous mutations in MKRN3 in eight unrelated girls with CPP. Four were frame shift mutations predicted to encode truncated proteins and one was a missense mutation, which was suggested to be deleterious by in silico analysis. All patients with MKRN3 mutations had classical features of CPP with a median age of onset at 6 years. Copy number and methylation abnormalities at the 15q11 locus were not detected in the patients tested for these abnormalities. Segregation analysis was possible in five of the eight girls with MKRN3 mutations; in all cases, the mutation was inherited on the paternal allele.
conclusionsWe have identified novel inherited MKRN3 defects in children with apparently sporadic CPP, supporting a fundamental role of this peptide in the suppression of the reproductive axis.
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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.