Birt-Hogg-Dubé (BHD) syndrome: Report of two novel germline mutations in the folliculin (FLCN) gene

Raffaele Palmirotta, Pietro Donati, Annalisa Savonarola, Carlo Cota, Patrizia Ferroni, Fiorella Guadagni

Research output: Contribution to journalArticlepeer-review


Molecular analysis of the folliculin (FLCN) gene was performed in four consenting patients from two families with Birt-Hogg-Dubé (BHD) syndrome, showing the occurrence of two frameshift mutations located respectively in exons 5 (802insA) and 9 (1345delAAAG) of the FLCN gene. A novel homozygous sequence variant in the intron 9 (IVS9 +5C>T) was also found. 1345delAAAG was associated with a wide variety of tumors, including stomach, colon, breast and parotid cancer. Conversely, the family carrying 802insA only had clinical evidence of dermatological lesions. These findings further suggest the relevance of exon 9 mutations in cancer predisposition for BHD.

Original languageEnglish
Pages (from-to)382-386
Number of pages5
JournalEuropean Journal of Dermatology
Issue number4
Publication statusPublished - Jul 2008


  • Birt-Hogg-Dubé syndrome
  • Cancer predisposition
  • Molecular analysis
  • Mutation
  • Sequence variants

ASJC Scopus subject areas

  • Dermatology


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