John Libbey Eurotext




Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene
European Journal of Dermatology. Volume 18, Number 4, 382-6, July-August 2008, Genes and skin
Free Article
Author(s) : Raffaele Palmirotta, Pietro Donati, Annalisa Savonarola, Carlo Cota, Patrizia Ferroni, Fiorella Guadagni
Summary : 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.
Keywords : Birt-Hogg-Dubé syndrome, cancer predisposition, molecular analysis, mutation, sequence variants

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