The diagnostic workflow detected another missense variant, c.1070T>C, p.(Met357Thr), in the KCNJ1 gene (RefSeq NM_000220.4) encoding ROMK, the pore-forming subunit of the kidney's main potassium-secreting channel, found to be associated with severe forms of BS (BS type 2) [2, 3]. This evidence concerns the gene KCNJ1 and Bloom syndrome.