{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T00:59:09Z","timestamp":1755219549051,"version":"3.43.0"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>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 (<jats:italic>RSPH4A<\/jats:italic>) 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 <jats:italic>RSPH4A<\/jats:italic> gene. A literature review reported that 21 pathogenic variants in <jats:italic>RSPH4A<\/jats:italic> have been discovered. WES recognized disease-causing mutations in PCD, and c.351dup (p. Pro118Serfs*2) frameshift mutation in <jats:italic>RSPH4A<\/jats:italic> may become a hotspot in Chinese patients.<\/jats:p>","DOI":"10.3389\/fped.2025.1630730","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T04:12:07Z","timestamp":1754539927000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"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 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