HUEY-LING CHENChang P.-S.Hsu H.-C.YEN-HSUAN NIHONG-YUAN HSUJYH-HONG LEEYUNG-MING JENGShau W.-Y.MEI-HWEI CHANG2021-01-042021-01-0420020022-3476https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036161690&doi=10.1067%2fmpd.2002.119993&partnerID=40&md5=d106b946671d8dd56c652a25d56d67cdhttps://scholars.lib.ntu.edu.tw/handle/123456789/537135To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11) mutations in Taiwanese children with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase (GGT) levels, we assessed 13 unrelated patients with infantile onset chronic intrahepatic cholestasis. Liver complementary DNA sequencing was performed in 7 infants for mutation analyses of FIC1 and BSEP genes. Two distinct liver histologic features were found. Group I (n = 5) was characterized by bland cholestasis and group 2 (n = 8) by giant cell transformation. Group 2 patients were associated with higher transaminase levels, α-fetoprotein levels, and early mortality. Novel FIC1 mutations were found in all 4 patients tested in group 1, including a 74-bp deletion, a 98-bp deletion, a nonsense, and 2 missense mutations. BSEP mutations were found in 2 of the 3 patients in group 2, including 2 missense mutations and a 1-bp deletion. Phenotypic characterization is useful to differentiate FIC1- from BSEP-related disease.[SDGs]SDG3gamma glutamyltransferase; gene product; protein bsep; protein fic1; unclassified drug; article; biliary tract drainage; cell transformation; clinical article; controlled study; differential diagnosis; DNA sequence; enzyme assay; female; gene deletion; gene mutation; genetic analysis; giant cell; histopathology; human; infant; intrahepatic cholestasis; male; missense mutation; mortality; newborn; nonsense mutation; phenotype; priority journal; sequence analysis; Taiwanjournal article10.1067/mpd.2002.119993118157752-s2.0-0036161690