A recent genetic study of Japanese patients with BHD syndrome published in 2016 included 312 patients from 120 different families and identified 31 FLCN sequence variants; two different mutation hot spots, c.1533_1536delGATG in exon 13 and c.1347_1353dupCCACCCT in exon 12, were found [14]. This evidence concerns the gene FLCN and Birt-Hogg-Dubé syndrome.