ArticleBMC endocrine disorders2015
A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.
Article in BMC endocrine disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 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
- Zearalenone induces GnRH neurons activation related to central precocious puberty by triggering MKRN3 auto-ubiquitination and down-regulation.Toxicology research · 2025Article
- Methylome analysis in girls with idiopathic central precocious puberty.Clinical epigenetics · 2024Article
- Efficacy and Safety of Leuprolide Acetate 6-Month Depot for the Treatment of Central Precocious Puberty: A Phase 3 Study.Journal of the Endocrine Society · 2023Article
- A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.Journal of endocrinological investigation · 2023Article
- Six Novel Variants in theJournal of the Endocrine Society · 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
- Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.Frontiers in endocrinology · 2021Article
- GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.European journal of endocrinology · 2020Review
- Makorin RING finger protein 3 and central precocious puberty.Current opinion in endocrine and metabolic research · 2020Article
- MKRN3 and KISS1R mutations in precocious and early puberty.Italian journal of pediatrics · 2020Article
- Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.Seminars in reproductive medicine · 2019Review
- Article
- Association between MKRN3 and LIN28B polymorphisms and precocious puberty.BMC genetics · 2018Article
- The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake.Evolutionary anthropology · 2018Review
- MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study.Endocrine · 2018Observational
- Article
- The first Japanese case of central precocious puberty with a novelHuman genome variation · 2017Article
- An update on the genetic causes of central precocious puberty.Annals of pediatric endocrinology & metabolism · 2016Review
- Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.Hormone research in paediatrics · 2016Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCentral precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expressed only when the MKRN3 mutations are localized on the allele inherited from the father. The function of this gene is not completely known and the phenotype caused by its defect is not yet fully elucidated. We report a new MKRN3 mutation (Pro160Cysfs*14) causing familial CPP. CASE PRESENTATION: The index case is a 7 years old girl showing Tanner stage 3 and pubic hair stage 1. Her bone age evaluated by TW2 method was 10.3 years. Her hormonal data confirmed the diagnosis of central precocious puberty. Familial medical history revealed precocious puberty in a cousin on paternal side. Paternal grandmother had menarche at the age of 9 years and 6 months and premature menopause when she was 36 years old. Genetic analysis revealed a new mutation (c477_485del; Pro160Cysfs*14) in the maternally imprinted MKRN3. Puberty onset was at 5 years in the other affected female family member. Precocious puberty was well controlled by pharmacological therapy.
conclusionWe expand the number of the MKRN3 mutations associated with CPP and highlight the importance of an accurate family medical history to disclose the peculiar pattern of inheritance of this gene.
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