Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

doi:10.1164/rccm.202501-0186OC

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Article

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

American journal of respiratory and critical care medicine - 1 Nov 2025

Briggs Lizi, Brandão Cátia, Fleming Andrew, Edwards Matthew, Mueller Steven, Wilkinson Sam, Rogers Andrew, Quinn Ellie, Rai Ranjit, Hogg Claire, Bottier Matthieu, Burgoyne Tom, Carr Siobhan, Gardner Laura, Jones Andrew, Loebinger Michael, Mitchison Hannah M, Jose Ricardo, Shah Anand, Shoemark Amelia, Slater Amy, John Shibu, Morris-Rosendahl Deborah J

Abstract excerpt

Rationale: Primary ciliary dyskinesia (PCD) is a rare respiratory disorder of motile cilia caused by pathogenic variants in >50 known genes. Genetic testing routinely examines the coding regions of these genes, and biallelic pathogenic variants are reported in as many as 70% of patients. Many patients remain with an incomplete or no genetic diagnosis. Objectives: To retrospectively analyze the diagnostic yield in...

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PMID: 40758541
DOI: 10.1164/rccm.202501-0186OC

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