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Article

Enhancing genetic diagnosis of primary ciliary dyskinesia by copy number variants analysis.

Respiratory medicine - 1 Jul 2026

Bertini Veronica, Pifferi Massimo, Ramone Teresa, Maj Debora, Michelucci Angela, Di Cicco Maria Elisa, Cambi Francesca, Peroni Diego, Caligo Maria Adelaide, Valetto Angelo

Abstract excerpt

BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a rare, genetically heterogeneous disorder. Despite the increasing number of identified causative genes, 20-30% of patients still lack a genetic diagnosis. To date, genetic analyses have primarily focused on single nucleotide variants (SNVs). In this study, we evaluated whether the detection of copy number variants (CNVs) improves the diagnostic yield in our large...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42061474
DOI: 10.1016/j.rmed.2026.108866

Genes

CCDC39
CFAP300
DNAAF4
DNAAF6
DNAH11
DNAH5
DNAI2
ODAD1
ODAD4
SPAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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