ArticleItalian journal of pediatrics2020
MKRN3 and KISS1R mutations in precocious and early puberty.
Article in Italian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 30 citations in OpenAlex.
- The Interplay Between Body Weight and the Onset of Puberty.Children (Basel, Switzerland) · 2025Review
- Outcomes of Patients With Familial Central Precocious Puberty due to Mutations ofInternational journal of endocrinology · 2025Article
- Genetic Variants inGenes · 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
- The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.Children (Basel, Switzerland) · 2023Review
- LKB1 alleviates high glucose‑ and high fat‑induced inflammation and the expression of GnRH and sexual precocity‑related genes, in mouse hypothalamic cells by activating the AMPK/FOXO1 signaling pathway.Molecular medicine reports · 2022Article
- Genetic factors in precocious puberty.Clinical and experimental pediatrics · 2022Article
- Incidental pineal gland cyst in girls with early onset of puberty.Italian journal of pediatrics · 2022Article
- Genetic and Epigenetic Control of Puberty.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2022Review
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
- Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB.Scientific reports · 2021Article
- A Novel Loss-of-FunctionFrontiers in genetics · 2021Article
- Makorin RING finger protein 3 and central precocious puberty.Current opinion in endocrine and metabolic research · 2020Article
- Genetic variants of G-protein coupled receptors associated with pubertal disorders.Reproductive medicine and biologyReview
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPubertal timing is known to be influenced by interactions among various genetic, nutritional, environmental and socio-economic factors, although the ultimate mechanisms underlying the increase in pulsatile GnRH secretion at puberty have yet to be fully elucidated. The aim of our research was to verify the role of KISSR1 (previously named GPR54) and MKRN3 genes on pubertal timing.
methodsWe analyzed the DNA sequence of these genes in 13 girls affected by central precocious puberty (CPP) who showed onset of puberty before 8 years of age, and in 6 girls affected by early puberty (EP) between 8 and 10 years of age.
resultsDirect sequencing of the KISS1R (GPR54) gene revealed two SNPs. One SNP is a missense variant (rs 350,132) that has been previously reported in connection to CPP in Korean girls. The other variant that we found in the GPR54 gene (rs764046557) was a missense SNP located in exon 5 at position 209 of the aminoacid. We identified this variant in only one CPP patient. Automatic sequencing of MKRN3 in all patients revealed three variants in eight subjects. In 6 out of 19 (31.5%) patients (3/13 CPP patients and 3/6 EP patients) we found the synonymous variant c.663C > T (rs2239669). Another synonymous variant (rs140467331) was found in one of our CPP patients, as well as one missense variant (rs760981395) in another CPP patient.
conclusionIn conclusion, we identified sequence variations of the KISS1R and MKRN3 genes, two of the most frequent genetic causes of ICPP. Our results suggest that these variants might be inducible factors in the pathogenesis of CPP.
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