Abstract

1of5 ONLINE MUTATION REPORT ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson ............................................................................................................................. J Med Genet 2003;40:e70(http://www.jmedgenet.com/cgi/content/full/40/5/e70) ntrahepatic cholestasis of pregnancy (ICP), also known as Key points obstetric cholestasis, is a liver disease of pregnancy that Icomplicates 0.7% of pregnancies in the UK. ICP causes • Intrahepatic cholestasis of pregnancy (ICP) affects 0.7% maternal pruritus and hepatic impairment and can cause fetal of pregnancies in the UK. death, spontaneous prematurity, and sudden intrauterine 3–6 death. A diagnosis of ICP is made by the demonstration of • Our aim was to assess the role of ABCB4 sequence abnormal liver function test results, and in particular the variants in a large number of cases of ICP (n=184). 7–10 serum bile acids are raised. This is thought to be a • To identify new and/or frequent variants, we sequenced consequence of abnormal bile transport across the hepatocyte all coding exons in 14 cases. We then established the canalicular membrane. Clinical features are heterogeneous frequency of these variants and 11 previously published and the aetiology is