The majority of BHD germline mutations identified in this investigation, both of our studies combined and all studies combined, are predicted to produce a C-terminally truncated folliculin (FLCN) resulting in loss of function.4–15 In this study, we report a mutation in a family in which a BHD mutation was not previously detected.6 Re-sequencing DNA from family 240, who linked to chromosome 17p11.2, revealed that affected haplotype carriers had a putative splice site mutation in the BHD gene within intron 4 (IVS4-2 A>G) (table 1). The gene discussed is FLCN; the disease is Birt-Hogg-Dube syndrome.