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March 29, 2026npj Genomic Medicine0 citationsOpen Access

Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations – breaking the ‘rare disease’ status?

IBIzabela BroniarekDKDavid J. KwiatkowskiNRN. Rajan

Key Points

  • The research aims to reassess the prevalence of Birt-Hogg-Dubé syndrome based on genotype data from diverse populations.
  • Analyzed genotype-based data from a large genomic registry
  • Compared frequencies of FLCN variants across multi-ethnic groups
  • Assessed the need for updated prevalence estimates
  • Investigated the representation of non-European populations
  • Birt-Hogg-Dubé syndrome-causing FLCN variants are 75 to 180 times more prevalent than previously estimated
  • Highlights the underrepresentation of certain populations in current prevalence data
  • Indicates a need for revised estimates for tumor suppressor gene syndromes

Abstract

The phenotype-based prevalence of Birt-Hogg-Dubé syndrome (BHD) is commonly estimated at 1 in 200,000–500,000. However, we demonstrate that BHD-causing FLCN variants are 75 to 180 times more prevalent in the multi-ethnic large genomic registry population. We highlight the urgent need for updated prevalence and penetrance estimates for BHD and other tumor suppressor gene syndromes, particularly among underrepresented non-European populations.

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Cite This Study

Broniarek et al. (2026) studied this question.

synapsesocial.com/papers/69c8c22cde0f0f753b39c5dfhttps://doi.org/10.1038/s41525-026-00563-2
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