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A novel MKRN3 missense mutation causing familial precocious puberty.

L de Vries1, G Gat-Yablonski2, N Dror3

  • 1The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva 49202, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel liatd@clalit.org.il liatdevries@gmail.com.

Human Reproduction (Oxford, England)
|October 16, 2014
PubMed
Summary

Genetic mutations in the makorin RING-finger protein 3 (MKRN3) gene are linked to central precocious puberty. This study identifies a specific MKRN3 mutation impacting protein function and pubertal timing.

Keywords:
central precocious pubertymakorin RING-finger protein 3maternal imprintingzinc finger

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Central precocious puberty (CPP) is a condition where puberty begins unusually early.
  • Familial cases account for approximately 25% of idiopathic CPP, suggesting a genetic basis.
  • The specific genetic factors underlying familial CPP remain largely unidentified.

Observation:

  • This study investigated a family exhibiting central precocious puberty across multiple generations.
  • Genetic analysis revealed a novel missense mutation (p.H420Q) in the imprinted makorin RING-finger protein 3 (MKRN3) gene.
  • The MKRN3 mutation was present in affected siblings, their unaffected father, and his affected mother.

Findings:

  • The identified p.H420Q mutation in MKRN3 is associated with central precocious puberty.
  • In silico modeling predicts that this mutation impairs the MKRN3 protein's ability to bind zinc and RNA.
  • These functional changes suggest a disruption in the protein's role in regulating pubertal onset.

Implications:

  • This research highlights the critical role of the MKRN3 gene in the precise regulation of human pubertal timing.
  • Understanding MKRN3 mutations provides new insights into the genetic etiology of central precocious puberty.
  • Further research into MKRN3 function could lead to improved diagnostic and therapeutic strategies for early puberty disorders.