FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase levels
Journal
Journal of Pediatrics
Journal Volume
140
Journal Issue
1
Pages
119-124
Date Issued
2002
Author(s)
Chang P.-S.
Hsu H.-C.
Shau W.-Y.
Abstract
To 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
Other Subjects
gamma 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; Taiwan
Publisher
Mosby Inc.
Type
journal article