Hübner C, Meyer R, Kenawy A, et al. - In the present study, the researchers sought to verify the role of HMGA2 as Silver-Russell syndrome (SRS) causing gene and reassess its mode of inheritance. Patients were part of an ongoing study that addressed gene-causing SRS. They were classified according to the Netchine-Harbison clinical scoring system, DNA samples were examined by whole exome sequencing. In five patients from three SRS families, three novel pathogenic HMGA2 variants were identified, and SRS diagnostic criteria were met. In a severely affected sibpair, homozygosity for a variant in HMGA2 could be detected for the first time, while parents bearing heterozygous variants had a mild phenotype. Identification of novel pathogenic variants confirms HMGA2 as a gene triggering SRS, therefore HMGA2 monitoring should be done in the diagnostic molecular SRS workup. In addition, HMGA2 inheritance is variable depending on variant severity and its effect on protein function.