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=12

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