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.

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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
Controls
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article

Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report

Jie Chang, Jingna Wang, Rongmin Li, Yanmei Sang et al.
2 citations
Frontiers in Endocrinology
Nuclear Structure and Function
0.47
article

Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report

Jie Chang, Jingna Wang, Rongmin Li, Yanmei Sang, Shu-Qin Lei, Jieying Wang, Di Wu
article en
2 citations

Abstract

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.

Frontiers in EndocrinologyVol. 15
Capital Medical University (CN), Beijing Children’s Hospital (CN), Baoding People's Hospital (CN)
Openalex Percentile: Top 33%
Nuclear Structure and Function
0.47
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Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report — Jie Chang, Jingna Wang, et al. · Frontiers in Endocrinology (2024) | TGRS Research Map | TGRS