Unsurprisingly, only 1 (MSH2-p.M688V) of the 14 VUS could be considered as pathogenic, although the other mutations, MLH1 (p.T117M) and MSH6 (p.A1889V), identified in the MSH2-p.M688V carriers may also contribute toward the LS phenotype [Christensen et al., 2008, 2009]. Here, MSH2 is linked to Leigh syndrome.