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Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohorts

10 Apr 2025

Abstract excerpt

Birt-Hogg-Dub� syndrome (BHDS) is the most common monogenic cause of pneumothorax. Most affected families have pathogenic variants in the FLCN gene. Using large genomic registries (UK Biobank (UKB), 100,000 Genomes Project and East London Genes & Health) including >550 000 individuals, we demonstrate that the frequency of clinically validated loss-of-function FLCN variants is 1 in 2710 to 4190. While the lifetime...

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Identifiers

PMID: 40210444
DOI: 10.1136/thorax-2024-221738

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