CASE REPORT article
Front. Pediatr.
Sec. Pediatric Pulmonology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1630730
Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report
Provisionally accepted
Xu Wanting1,2,3,4
Yan Yang1,2,3Lan Kang1,2
Ling Guo3Jing Liu3Yan Zeng1Lei Li4Ai Chen4Rong Zhang1,2*
Dong Wenbin1,2,3*- 1Division of neonatology, Department of Pediatrics, the Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan, China
- 2Department of Perinatology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan, China
- 3Sichuan Clinical Research Center for Birth Defects, Luzhou 646000, Sichuan, China
- 4Chengdu Second People’s Hospital, Chengdu 610011, Sichuan, China
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Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder characterized by dysfunctional motile cilia, with or without detectable ultrastructural abnormalities. This research focuses on a rare radial spoke head component 4A (RSPH4A) homozygous mutation on PCD in a Chinese adolescent girl. The patient was an 11-year-and-3-month-old girl who caught neonatal pneumonia after birth and gradually developed persistent perennial rhinitis and recurrent productive cough. Lung CT scan indicated bronchiectasis, and Whole exome sequencing (WES) exhibited a novel pathogenic homozygous c.351dup (p. Pro118Serfs*2) frameshift mutation in RSPH4A gene. A literature review reported 21 pathogenic variants in RSPH4A have been discovered. WES recognized disease-causing mutations in PCD, and c.351dup (p. Pro118Serfs*2) frameshift mutation in RSPH4A may become a hotspot in Chinese patients.
Keywords: adolescent patient, primary ciliary dyskinesia, Homozygous mutations, RSPH4A, case report
Received: 22 May 2025; Accepted: 15 Jul 2025.
Copyright: © 2025 Wanting, Yang, Kang, Guo, Liu, Zeng, Li, Chen, Zhang and Wenbin. 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:
Rong Zhang, Division of neonatology, Department of Pediatrics, the Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan, China
Dong Wenbin, Division of neonatology, Department of Pediatrics, the Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan, China
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