[HTML][HTML] A Novel Loss-of-Function MKRN3 Variant in a Chinese Patient With Familial Precocious Puberty: A Case Report and Functional Study
X Yin, J Wang, T Han, Z Tingting, Y Li, Z Dong…�- Frontiers in�…, 2021 - frontiersin.org
X Yin, J Wang, T Han, Z Tingting, Y Li, Z Dong, W Wang, C Li, W Lu
Frontiers in Genetics, 2021•frontiersin.orgBackground: 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�…
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�…
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.
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