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CASE REPORT article

Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1491664

Novel MKRN3 Gene Mutation Associated with Central Precocious Puberty in a Chinese Child: A Case Study

Provisionally accepted
Jingna Wang Jingna Wang 1Rongmin Li Rongmin Li 1*Jieying Wang Jieying Wang 1*Di Wu Di Wu 2*Shuqin Lei Shuqin Lei 1*Yanmei Sang Yanmei Sang 2*Jie Chang Jie Chang 1*
  • 1 Baoding Hospital, Beijing Children’s Hospital, Capital Medical University, Baoding, Hebei Province, China
  • 2 Beijing Children’s Hospital, Capital Medical University, Beijing, Beijing Municipality, China

The final, formatted version of the article will be published soon.

    Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP). Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP. Results: A 4-year and 9-month-old female patient presented with precocious puberty, characterized by accelerated growth, Tanner stage II breast development, and Tanner stage I pubic hair. A café-au-lait macule was observed on the patient's right flank. WES revealed a novel heterozygous frameshift mutation caused by a single nucleotide deletion (c.1219delA) in exon 1 of the makorin RING finger protein 3 (MKRN3) gene, resulting in a substitution of arginine (R) with glycine (G) at codon 407 (p.R407G). This frameshift mutation (p.R407Gfs*75), which was inherited from the patient's asymptomatic father, results in premature termination of its translation, leading to a truncated protein 73 amino acids downstream from the mutation site. Conclusion: This case underscores the genetic heterogeneity of ICPP and further implicates MKRN3 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.

    Keywords: idiopathic central precocious puberty, MKRN3, Chinese child, c.1219delA, p.R407Gfs*75

    Received: 05 Sep 2024; Accepted: 25 Nov 2024.

    Copyright: © 2024 Wang, Li, Wang, Wu, Lei, Sang and Chang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Rongmin Li, Baoding Hospital, Beijing Children’s Hospital, Capital Medical University, Baoding, Hebei Province, China
    Jieying Wang, Baoding Hospital, Beijing Children’s Hospital, Capital Medical University, Baoding, Hebei Province, China
    Di Wu, Beijing Children’s Hospital, Capital Medical University, Beijing, 100045, Beijing Municipality, China
    Shuqin Lei, Baoding Hospital, Beijing Children’s Hospital, Capital Medical University, Baoding, Hebei Province, China
    Yanmei Sang, Beijing Children’s Hospital, Capital Medical University, Beijing, 100045, Beijing Municipality, China
    Jie Chang, Baoding Hospital, Beijing Children’s Hospital, Capital Medical University, Baoding, Hebei Province, China

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