ESPE Abstracts (2014) 82 P-D-1-2-212

ESPE2014 Poster Presentations Reproduction (1) (11 abstracts)

A Novel MKRN3 Mutation Discovered in a Korean Girl with Central Precocious Puberty

Hae Sang Lee a , Jung Sub Lim b , Jin Soon Hwang a & Eun Young Kim c

aAjou University School of Medicine, Suwon, Republic of Korea; bKorea Cancer Center Hospital, Seoul, Republic of Korea; cCollege of Medicine Chosun University, Gwangju, Republic of Korea

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 girl’s 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.

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