AUTHOR=Yin Xueling , Wang Junqi , Han Tianting , Tingting Zhang , Li Yuhong , Dong Zhiya , Wang Wei , Li Chuanyin , Lu Wenli 

TITLE=A Novel Loss-of-Function MKRN3 Variant in a Chinese Patient With Familial Precocious Puberty: A Case Report and Functional Study

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.663746

DOI=10.3389/fgene.2021.663746

ISSN=1664-8021

ABSTRACT=Background: Central precocious puberty (CPP) is one of the most common and complex problems in clinical pediatric endocrinology practice. Mutation of MKRN3 gene can cause the familial CPP.
Methods and Results: Here we reported a Chinese patient bearing a novel MKRN3 mutation (c.G277A/p.Gly93Ser) and showing CPP phenotype. Functional studies found that this mutation of MKRN3 attenuated its autoubiquitination, degradation and inhibition on the transcriptional activity of GNRH1, KISS1 and TAC3 promoter.  
Conclusion: MKRN3 (Gly93Ser) is a loss-of-function mutation, which attenuated the inhibition on GnRH1 related signaling, suggesting this mutant can lead to central precocious puberty.
Key words: Central precocious puberty, MKRN3, ubiquitination,GnRH1