ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1573826
Novel compound heterozygous TCTN1 variants cause Joubert syndrome in a Chinese boy
Provisionally accepted
- 1Department of Laboratory Medicine, Northwest Women’s and Children’s Hospital, Xian, China
- 2Department of Clinical Laboratory, Second Affiliated Hospital of Xi'an Jiaotong University, xi'an, China
- 3Department of Pediatrics, Northwest Women's and Children's Hospital, xi'an, China
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Background: Joubert syndrome (JS) is a rare human genetic disorder classified as a canonical ciliopathy, with potential involvement of ciliary dysfunction in its pathogenesis. This study aimed to describe the clinical and genetic characteristics of a Chinese boy diagnosed with Joubert syndrome.We also reviewed the literature to summarize recent advances in research on TCTN1.Methods: An 8-month-old boy was diagnosed with JS based on global developmental delay and the presence of the molar tooth sign in the midbrain. Whole exome sequencing was conducted to identify causative gene variants, and the identified variant was further validated using Sanger sequencing. A minigene assay was performed to determine whether a novel TCTN1 intronic variant affected normal mRNA splicing.We identified novel compound heterozygous variants in TCTN1 (c.959G>A and c.1780+1G>A). The minigene splicing assay confirmed that the splicing variant altered a consensus splice acceptor site in TCTN1 intron 13, resulting in exon 14 skipping.Conclusions: These findings strongly suggest that the two novel variants are pathogenic TCTN1 variants, expanding the genetic spectrum and clinical profiles associated with JS.
Keywords: Joubert syndrome, Tctn1, Chinese boy, Novel compound heterozygous variant, ciliopathy
Received: 10 Feb 2025; Accepted: 23 Jun 2025.
Copyright: © 2025 Li, Wang, Zhang, Wang, Zhang and Xie. 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:
Xiao Ge Zhang, Department of Pediatrics, Northwest Women's and Children's Hospital, xi'an, China
Yun Xie, Department of Laboratory Medicine, Northwest Women’s and Children’s Hospital, Xian, China
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