CASE REPORT article
Front. Neurosci.
Sec. Neurodevelopment
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1600852
Cabezas Syndrome Caused by CUL4B gene mutations in two unrelated Chinese boys
Provisionally accepted
Li Lin1,2,3
Qi Yang1,2,3
Shujie Zhang1,2,3
Xunzhao Zhou1,2,3
Xiaoling Li2,4
Sheng Yi1,2,3
Qiang Zhang1,2,3Shang Yi1,2,3
Sheng He1,2,3Zailong Qin1,2,3*Jingsi Luo1,2,5*- 1Laboratory of Genetic Metabolism Center, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Zhuang Region, China
- 2Guangxi Clinical Research Center for Birth Defects,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China, Nanning, China
- 3Guangxi Key laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China
- 4Department of Child Health Care, Maternal and Child Health Hospital of Guangxi ZhuangAutonomous Region, Nanning, China
- 5Guangxi Clinical Research Center for Pediatric Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nannning, China
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As a component of the ubiquitin ligase complex, Cullin 4B(CUL4B) is involved in the process of ubiquitination of different substrates controlling genome stability, nucleotide excision repair, and chromatin-remodeling. The mutations in CUL4B gene are revealed to be a cause of Cabezas syndrome(OMIM 300354), a rare syndromic form of X-linked Intellectual disability(XLID). In this study, Whole-exome sequencing analysis and Sanger sequencing identified two maternally inherited likely pathogenetic variants(CUL4B, NM_001079872.2: c.803dupT/p. Leu268fs*5; c.953_957delTTATA/p. Ile318fs*2) in two probands, respectively. Patients carrying CUL4B variants presented with broad and variable phenotypic defects. The clinical manifestations of the two boys are consistent with Cabezas syndrome, yet exhibit significant heterogeneity compared to previously reported cases. Phenotypic manifestations resulting from genetic variations may exhibit population differences, and in some cases, may present with concealed or latent expressions. Therefore, regular pediatric health check-ups and appropriate molecular diagnostic techniques are essential for the early detection, diagnosis, and treatment of such disorders. Our findings could be used to better define the genetic map in this area and will be valuable in the genetic diagnosis of the disease.
Keywords: CUL4B, Cabezas syndrome, Intellectual Disability, developmental delay, Seizures, Novel variant
Received: 11 May 2025; Accepted: 04 Jul 2025.
Copyright: © 2025 Lin, Yang, Zhang, Zhou, Li, Yi, Zhang, Yi, He, Qin and Luo. 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:
Zailong Qin, Guangxi Clinical Research Center for Birth Defects,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China, Nanning, China
Jingsi Luo, Guangxi Clinical Research Center for Birth Defects,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China, Nanning, China
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