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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.
- 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