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

Authors :
Yin, Xueling
Wang, Junqi
Han, Tianting
Tingting, Zhang
Li, Yuhong
Dong, Zhiya
Wang, Wei
Li, Chuanyin
Lu, Wenli
Source :
Frontiers in Genetics; 8/6/2021, Vol. 12, p1-7, 7p
Publication Year :
2021

Abstract

Background: Central precocious puberty (CPP) is one of the most common and complex problems in clinical pediatric endocrinology practice. Mutation of the MKRN3 gene can cause familial CPP. Methods and Results: 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 GNRH1, KISS1 , and TAC3 promoters. Conclusion: 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
16648021
Volume :
12
Database :
Complementary Index
Journal :
Frontiers in Genetics
Publication Type :
Academic Journal
Accession number :
151835379
Full Text :
https://doi.org/10.3389/fgene.2021.663746