AUTHOR=Xu Wanting , Yang Yan , Kang Lan , Guo Ling , Liu Jing , Zeng Yan , Li Lei , Chen Ai , Zhang Rong , Dong Wenbin 

TITLE=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

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 13 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1630730

DOI=10.3389/fped.2025.1630730

ISSN=2296-2360

ABSTRACT=Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder characterized by dysfunctional motile cilia, with or without detectable ultrastructural abnormalities. This study focuses on a homozygous mutation in the rare radial spoke head component 4A (RSPH4A) gene in a Chinese adolescent girl with PCD. The patient, an 11-year and 3-month-old girl, developed neonatal pneumonia after birth and gradually presented with 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 the RSPH4A gene. A literature review reported that 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.