Analysis of gene mutations in children with cholestasis of undefined etiology.

ABSTRACT:

Background

The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis.

Patients and methods

DNA samples were obtained from 51 subjects with cholestasis of undefined etiology and surveyed for mutations in the genes SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 by a high-throughput gene chip. Then, the sequence readouts for all 5 genes were analyzed for mutations and correlated with clinical phenotypes. Healthy subjects served as controls.

Results

Sequence analysis of the genes identified 14 (or 27%) subjects with missen

SUBMITTER: Matte U 

PROVIDER: S-EPMC4090691 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature