CASE REPORT article
Front. Pediatr.
Sec. Pediatric Endocrinology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1634704
A Case of Complex Cortical Dysplasia with Central Precocious Puberty Onset
Provisionally accepted
- 1Child Healthcare Department, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
- 2Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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A mutation rendering microtubulin and microtubule-associated proteins ineffective leads to a tubulinopathy known as complex cortical dysplasia (CCD), characterized by clinical heterogeneity and a variety of cortical brain developmental abnormalities. These often commence with intellectual disability, epileptic seizures, and motor disorders. In this case, we present a 6-year-old child with CCD whose symptoms began with central precocious puberty. Whole-exome sequencing uncovered a TUBB2B gene heterozygous mutation, NM_178012.5:c.74G>A (p.Ser25Asn). To our knowledge, this mutation has not been previously documented. Computational structural analysis indicated that this variant alters the hydrogen bonding between Ser25 and Trp21, Gly29, and Ile30, thus modifying the secondary structure and function of the protein, contributing to the child's unique clinical presentation. These findings expand the range of TUBB2B gene variants and offer a direction for the precise treatment of this child, underscoring the importance of brain magnetic resonance imaging in children with central precocious puberty.
Keywords: case report, Complex cortical dysplasia, Central precocious pubertybeta, tubulinopathy, TUBB2B
Received: 25 May 2025; Accepted: 14 Aug 2025.
Copyright: © 2025 Guo, Chen, Wang, Lin, Guo and Ge. 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:
Chong Guo, Child Healthcare Department, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Jingmin Guo, Child Healthcare Department, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Pin Ge, Child Healthcare Department, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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