TJP2 and lymphedema: To evaluate the possibility that Patient 1 carried homozygous mutation in a gene implicated in cholestasis, and potentially responsible for his cholestasis independently of the homozygous mutation in the known lymphedema gene CCBE1, we evaluated the whole-genome SNP data for evidence of homozygosity in the following genes already known to be mutated in forms of cholestasis: ABCB11/BSEP, ABCB4/MDR3, EPHX1, TJP2, CLDN1, NR1H4/FXR, BAAT, SLC27A5, CIRH1A, VPS33B, VIPAR, ABCC2, HSD3B7, and AKR1D1 [20-32].