This complex event represents the first hit in a well‐defined subset of LS patients (1%–3% of the total) (Kuiper et al., 2011) that are typified by the expression of aberrant EPCAM/MSH2 fusion transcripts in normal and tumor colon tissues (Kovacs et al., 2009; Ligtenberg et al., 2009). Here, EPCAM is linked to Leigh syndrome.