Recently, two independent reports have described the detection of missense variants at the same residue of PRDM10 gene (c.2029T > C (p.Cys677Arg) and c.2030G > A (p.Cys677Tyr)) in two families with a BHD-like phenotype (including fibrofolliculomas, trichodiscomas, lipomas, lung cyst(s), and RCC) [33, 34]. This evidence concerns the gene PRDM10 and Birt-Hogg-Dube syndrome.