ArticleThe Journal of clinical endocrinology and metabolism2021
Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 50 citations in OpenAlex.
- 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
- 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
- Correlation between ceramide and its metabolites and central precocious puberty: a cross-sectional study.BMC pediatrics · 2026Article
- Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant.Therapeutic advances in endocrinology and metabolism · 2026Article
- Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.American journal of medical genetics. Part A · 2026Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Outcomes of Patients With Familial Central Precocious Puberty due to Mutations ofInternational journal of endocrinology · 2025Article
- AIMER: A SNP-independent software for identifying imprinting-like allelic methylated regions from DNA methylome.Computational and structural biotechnology journal · 2024Article
- MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.Journal of endocrinological investigation · 2024Article
- Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.The Journal of clinical endocrinology and metabolism · 2023Article
- [Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].Problemy endokrinologii · 2023Article
- MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.JCI insight · 2023Article
- Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications.The lancet. Diabetes & endocrinology · 2023Review
- Six Novel Variants in theJournal of the Endocrine Society · 2022Article
- Hypothalamic Overexpression of Makorin Ring Finger Protein 3 Results in Delayed Puberty in Female Mice.Endocrinology · 2022Article
- Applying precision medicine to the diagnosis and management of endocrine disorders.Endocrine connections · 2022Review
- Genetic factors in precocious puberty.Clinical and experimental pediatrics · 2022Article
- Genetic causes of central precocious puberty.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Review
Corrections and comments
- Erratum issued
Authors and funding
26 authors at 11 institutions in 4 countries.
Funding
Abstract
contextLoss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP).
objectiveTo describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the characteristics of different types of genetic defects.
methodsMultiethnic cohort of 716 patients with familial or idiopathic CPP screened for MKRN3 mutations using Sanger sequencing. A group of 156 Brazilian girls with idiopathic CPP (ICPP) was used as control group.
resultsSeventy-one patients (45 girls and 26 boys from 36 families) had 18 different loss-of-function MKRN3 mutations. Eight mutations were classified as severe (70% of patients). Among the 71 patients, first pubertal signs occurred at 6.2 ± 1.2 years in girls and 7.1 ± 1.5 years in boys. Girls with MKRN3 mutations had a shorter delay between puberty onset and first evaluation and higher follicle-stimulating hormone levels than ICPP. Patients with severe MKRN3 mutations had a greater bone age advancement than patients with missense mutations (2.3 ± 1.6 vs 1.6 ± 1.4 years, P = .048), and had higher basal luteinizing hormone levels (2.2 ± 1.8 vs 1.1 ± 1.1 UI/L, P = .018) at the time of presentation. Computational protein modeling revealed that 60% of the missense mutations were predicted to cause protein destabilization.
conclusionInherited premature activation of the reproductive axis caused by loss-of-function mutations of MKRN3 is clinically indistinct from ICPP. However, the type of genetic defect may affect bone age maturation and gonadotropin levels.
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