Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report
This case underscores the genetic heterogeneity of ICPP and further implicates <i>MKRN3</i> gene mutations in its pathogenesis. The identification of this novel pathogenic variant expands the known mutational spectrum associated with ICPP, particularly within the Chinese pediatric population. Comprehensive genetic testing should be considered in pediatric patients presenting with early-onset ICPP to facilitate accurate diagnosis, inform genetic counseling, and guide personalized management strategies.
Authors
- Jie Chang (ORCID: https://orcid.org/0000-0001-7296-8641)
- Jingna Wang
- Rongmin Li (ORCID: https://orcid.org/0000-0001-6948-4064)
- Yanmei Sang (ORCID: https://orcid.org/0000-0002-6213-2661)
- Shu-Qin Lei
- Jieying Wang (ORCID: https://orcid.org/0000-0001-7339-2744)
- Di Wu (ORCID: https://orcid.org/0000-0003-4829-3773)
Institutions
- Capital Medical University (CN)
- Beijing Children’s Hospital (CN)
- Baoding People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-12-20
- DOI
- https://doi.org/10.3389/fendo.2024.1491664
- Citations
- 2
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.47