Academic Journal
The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty
| العنوان: | The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty |
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| المؤلفون: | Chen, Ziwei, You, Qing, Wang, Junqi, Dong, Zhiya, Wang, Wei, Yang, Yuanyan, Ma, Xiaoyu, Li, Chuanyin, Lu, Wenli |
| المصدر: | American Journal of Medical Genetics Part A ; volume 194, issue 4 ; ISSN 1552-4825 1552-4833 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2023 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Central precocious puberty (CPP) refers to a syndrome of early puberty initiation with a characteristic increase in the release of gonadotropin‐releasing hormone (GnRH); therefore, it is also called GnRH‐related precocious puberty. About a quarter of idiopathic central precocious puberty (ICPP) may be familial. Studies suggest that mutations of makorin ring finger protein 3 (MKRN3) can cause familial central precocious puberty (FCPP). In this report, we describe a Chinese female patient carrying a novel MKRN3 variant (c.980G>A/p.Arg327His) and presenting the CPP phenotype. This novel variant attenuated its own ubiquitination, degradation, and inhibition on the transcriptional and translational activity of GNRH1, which was verified through functional tests. We can consider this variant as a loss‐of‐function mutation, which subsides the inhibition of GnRH1‐related signaling and gives rise to GnRH‐related precocious puberty. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/ajmg.a.63460 |
| الاتاحة: | http://dx.doi.org/10.1002/ajmg.a.63460 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63460 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.4AFA3E74 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.a.63460 |
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