More recently, Melanie Vog et al, identified a different base exchange at the same nucleotide site of FLCN gene, that is, c.1432 + 1G > T, in an Australian BHD syndrome patient.[21] This finding further strengthen the association between this splice site and BHD syndrome pathogenicity. This evidence concerns the gene FLCN and Birt-Hogg-Dubé syndrome.