Among the 32 patients suspected of having the syndrome, 18 (56%, CI 95% [52%–62%]) presented a point mutation at the ABCB4 locus, while none of the 28 patients with a classical form of cholelithiasis and none of the 33 patients without cholelithiasis had mutation in the ABCB4 gene (p < 0,001 and p < 0,0001; respectively). This evidence concerns the gene ABCB4 and cholelithiasis.