ArticleThe application of clinical genetics2026
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder.
Article in The application of clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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3 authors.
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Abstract
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder with variable clinical presentation. In cases where traditional diagnostic tools such as transmission electron microscopy (TEM) or nasal nitric oxide (nNO) measurement are inconclusive/unavailable, molecular diagnostics via whole-exome sequencing (WES) may provide essential insights. In this case report, we present two male infants with diverse phenotypes and genotypes. 1st patient was ultimately diagnosed with PCD thanks to WES, while 2nd patient was strongly suggestive of PCD. The 1st patient portrayed in his clinical history symptoms such as perinatal respiratory distress, situs inversus, and recurrent otitis media. He was found to carry a known pathogenic homozygous variant c.461A>C (p.His154Pro), in the
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