DCTN4 – Modifier of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

DCTN4 variants have been investigated as modifiers of pulmonary disease severity in cystic fibrosis (Cystic Fibrosis). In a single-centre cohort of 121 adult CF patients ([PMID:25763772]), 103 developed at least one Pseudomonas aeruginosa infection and 68 met criteria for chronic infection. DCTN4 missense variants were identified in 24% (29/121) of patients with any P. aeruginosa infection versus 17% (3/18) without infection, and in 29% (20/68) of chronic cases versus 23% (8/35) of non-chronic cases ([PMID:25763772]). The variant c.788A>G (p.Tyr263Cys) was found exclusively in 4 of 68 chronic patients and absent in 35 non-chronic patients ([PMID:25763772]), with enrichment noted in male patients harboring two class II CFTR mutations. These findings support an autosomal dominant modifier role for DCTN4 in CF pulmonary infection susceptibility, though replication in independent cohorts and mechanistic studies are needed to confirm pathogenicity.

References

• The Clinical Respiratory Journal • 2016 • DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. PMID:25763772

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