A novel MKRN3 missense mutation causing familial precocious puberty

L. De Vries*, G. Gat-Yablonski, N. Dror, A. Singer, M. Phillip

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder. In this report we describe a family with central precocious puberty associated with a mutation in the makorin RING-finger protein 3 (MKRN3) gene. A novel missense mutation (p.H420Q) in the imprinted MKRN3 gene was identified in the four affected siblings, in their unaffected father and in his affected mother. An in silico mutant MKRN3 model predicts that the mutation p.H420Q leads to reduced zinc binding and, subsequently, impaired RNA binding. These findings support the fundamental role of the MKRN3 protein in determining pubertal timing.

Original languageEnglish
Pages (from-to)2838-2843
Number of pages6
JournalHuman Reproduction
Issue number12
StatePublished - 26 Jun 2014


  • central precocious puberty
  • makorin RING-finger protein 3
  • maternal imprinting
  • zinc finger


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