Trial reportHormone research in paediatrics2012
Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.
Trial report in Hormone research in paediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic factors in precocious puberty.Clinical and experimental pediatrics · 2022Article
- Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty.Frontiers in endocrinology · 2022Review
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
- GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.European journal of endocrinology · 2020Review
- Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.Endocrine reviews · 2019Review
- The Genetic Basis of Delayed Puberty.Frontiers in endocrinology · 2019Review
- Genes underlying delayed puberty.Molecular and cellular endocrinology · 2018Review
- Genetics of pubertal timing.Current opinion in pediatrics · 2018Review
- The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).Journal of endocrinological investigation · 2017Review
- Association of genetic polymorphisms around the LIN28B gene and idiopathic central precocious puberty risks among Chinese girls.Pediatric research · 2016Article
- An update on the genetic causes of central precocious puberty.Annals of pediatric endocrinology & metabolism · 2016Review
- Pubertal development and regulation.The lancet. Diabetes & endocrinology · 2016Review
- Sex-specific regulation of weight and puberty by the Lin28/let-7 axis.The Journal of endocrinology · 2016Article
- Central Precocious Puberty: Update on Diagnosis and Treatment.Paediatric drugs · 2015Article
- Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.The Journal of clinical endocrinology and metabolism · 2014Article
- Changes in hypothalamic expression of the Lin28/let-7 system and related microRNAs during postnatal maturation and after experimental manipulations of puberty.Endocrinology · 2013Article
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 3 countries.
Funding
Abstract
aimTo investigate LIN28B gene variants in children with idiopathic central precocious puberty (CPP). PATIENTS AND
methodsWe studied 178 Brazilian children with CPP (171 girls, 16.8% familial cases). A large multiethnic group (1,599 subjects; Multiethnic Cohort, MEC) was used as control. DNA analysis and biochemical in vitro studies were performed.
resultsA heterozygous LIN28B variant, p.H199R, was identified in a girl who developed CPP at 5.2 years. This variant was absent in 310 Brazilian control individuals, but it was found in the same allele frequency in women from the MEC cohort, independent of the age of menarche. Functional studies revealed that when ectopically expressed in cells, the mutant protein was capable of binding pre-let-7 microRNA and inhibiting let-7 expression to the same extent as wild-type Lin28B protein. Other rare LIN28B variants (p.P173P, c.198+ 32_33delCT, g.9575731A>C and c.-11C>T) were identified in CPP patients and controls. Therefore, no functional mutation was identified.
conclusionIn vitro studies revealed that the rare LIN28B p.H199R variant identified in a girl with CPP does not affect the Lin28B function in the regulation of let-7 expression. Although LIN28B SNPs were associated with normal pubertal timing, rare variations in this gene do not seem to be commonly involved in the molecular pathogenesis of CPP.
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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 OpenQuestion graph.