5 Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611&#fe;1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach.

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ABCB11 p.Val1112Phe 25771912:5:65

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129 Pat Gene Sequence alteration Coverage (reads) Interpretation OMIM phenotype Mode of inheritance Reference 1 PKHD1 c.2330C > T p.Thr777Met 11/30 Heterozygous VUS 4 AR Polycystic Kidney Disease Autosomal rezessiv This report 1 PKHD1 c.6779A > G p.Tyr2260Cys 20/33 Heterozygous VUS 4 AR Polycystic Kidney Disease Autosomal rezessive This report 2 LBR c.1114C > T p.Arg372Cys 27/68 Heterozygous VUS 5 Reynolds-Syndrome Primary Biliary Cirrhosis Autosomal dominan [15] 2 ABCB11 c.3334G > T p.Val1112Phe 4/5 heterozygous VUS 4 Progressive familial intrahepatic cholestasis Autosomal rezessive This report 3 NPC1 c.346C > T p.Arg116* 21/56 Heterozygous VUS 5 NiemannePick Type C Autosomal rezessive [16] 3 NPC1 c.1171G > A p.Glu391Lys 12/34 Heterozygous VUS 4 NiemannePick Type C Autosomal rezessive This report 4 ABCB11 c.611&#fe;1G > A Splice site 35/76 heterozygous VUS 4 Progressive familiar intrahepatic cholestasis Autosomal recessive This report 4 ABCB11 c.1881dupT p.Gly628Trpfs*3 47/87 Heterozygous VUS 4 Progressive familiar intrahepatic cholestasis Autosomal recessive This report Fig. 1.

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ABCB11 p.Val1112Phe 25771912:129:487

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144 Patient No. 2 was shown to carry a heterozygous ABCB11 mutation p.Val1112Phe, which so far has neither been described in healthy controls nor as a pathogenic mutation.

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ABCB11 p.Val1112Phe 25771912:144:66

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