title: Analysis of mutations ofMDR3exons 9 and 23 in infants with parenteral nutrition-associated cholestasis.
abstract: The aim of this study was to investigate mutations of multidrug resistance 3 (MDR3) exons 9 and 23 in infants with parenteral nutrition-associated cholestasis (PNAC). A total of 41 infants with PNAC were enrolled in the study. Genomic DNA was extracted from the peripheral venous blood leukocytes of each patient and MDR3 exons 9 and 23 were amplified by polymerase chain reaction. One patient was identified who carried a frameshift mutation in MDR3 exon 23 (C.2793) that was caused by the insertion of a single adenine residue, while mutations were not found in MDR3 exon 23 in the other 40 patients. The clinical features of the patient with the MDR3 exon 23 frameshift mutation included high serum γ-glutamyl transferase levels, the absence of biliary dilatation and deformity in magnetic resonance cholangiopancreatography, and abnormal electrical capacitance tomography imaging of the liver. No mutations in MDR3 exon 9 were identified in any of the patients. All 41 PNAC patients recovered following oral ursodeoxycholic acid treatment. The C.2793 frameshift mutation in MDR3 exon 23 is potentially associated with the development of PNAC in infants.
authors.affiliation: Department of Neonatology, Zhongshan People's Hospital Affiliated to Sun Yat-sen University, Zhongshan, Guangdong 528403, P.R. China.
authors.forename: Xiu-Fang
authors.initials: XF
authors.lastname: Yang
authors.affiliation: Department of Neonatology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China.
authors.forename: Guo-Sheng
authors.initials: GS
authors.lastname: Liu
authors.affiliation: Dongguan Maternal and Child Health Center, Dongguan, Guangdong 523000, P.R. China.
authors.forename: Min-Xu
authors.initials: MX
authors.lastname: Li
keywords: clinical features; multidrug resistance 3 gene; mutation; parenteral nutrition associated-cholestasis