Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the gene: a case report.

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 () 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. Pro118Serfs2) frameshift mutation in the gene. A literature review reported that 21 pathogenic variants in have been discovered. WES recognized disease-causing mutations in PCD, and c.351dup (p. Pro118Serfs2) frameshift mutation in may become a hotspot in Chinese patients.