Context: It has recently been shown that mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP.
Methods: Two hundred and sixty Korean girls with idiopathic CPP were included in this study. Auxological and endocrine parameters were measured. The entire MKRN3 gene was directly sequenced.
Results: The analysis of the MKRN3 gene revealed one novel nonsense mutation (p.Gln281*) and six kinds of missense variants (p.Ile100Phe, p.Gly196Val, p.Ile204Thr, p.Gln226Pro, p.Lys233Asn, and p.Ser396Arg). The novel nonsense mutation (p.Gln281*) was a heterozygous C>T nucleotide change (c.841C>T) predicted to result in a truncated protein due to a premature stop codon in the MKRN3 gene. The nonsense mutation (p.Gln281*) was identified in a girl. The girls father had the same nonsense mutation, but her mother did not.
Conclusion: We reported a novel MKRN3 mutation (p.Gln281*) in a girl with CPP. The present study reveals that the MKRN3 mutation appears to be associated with the progression of puberty.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology