Finally, in a one-year-old (now 8y) Roma girl (ID F1RO453) with cholestatic cirrhosis, WES revealed a yet unreported homozygous splice-site variant, c.65-2A>T, in F11R (OMIM 605721), encoding the tight junction protein JAM1 (Figs 4 and S2). The gene discussed is F11R; the disease is primary biliary cholangitis.