title: A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.
abstract: BACKGROUND
  This study aimed to evaluate the genetic effect of the NR1H4 gene in the pathogenesis of idiopathic infantile cholestasis of Chinese subjects in Guangxi, China.
  
  
  METHODS
  Seventy-eight patients with idiopathic infantile cholestasis served as a study group and 95 infants without cholestasis as controls. Genomic DNA was extracted from peripheral venous blood leucocytes by phenol chloroform procedures. Polymerase chain reaction (PCR) was used to amplify all coded exons of NR1H4, and single-strand conformation polymorphism (SSCP) was used to analyze all amplification fragments. The PCR products with abnormal bands in SSCP were sequenced using an ABI 3100 sequencer.
  
  
  RESULTS
  A novel heterozygous termination codon mutation in NR1H4 exon 5 (NR1H4 R176X, CGA-TGA) was found in one of the 78 patients. The patient with mutation R176X had high levels of bilirubin, alanine aminotransferase, γ-glutamyltransferase, cirrhosis and ascites despite biliary tract flushing procedures and drug therapy. In the other patients and controls, no mutation was detected.
  
  
  CONCLUSIONS
  Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. The novel mutation is useful to establish particular characteristics for differential diagnosis of idiopathic infantile cholestasis and to determine the influence of such gene defects in the prognosis.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning, 530021, Guangxi, China.
authors.forename: Xiu-Qi
authors.initials: XQ
authors.lastname: Chen
authors.forename: Lin-Lin
authors.initials: LL
authors.lastname: Wang
authors.forename: Qing-Wen
authors.initials: QW
authors.lastname: Shan
authors.forename: Qing
authors.initials: Q
authors.lastname: Tang
authors.forename: Ya-Nan
authors.initials: YN
authors.lastname: Deng
authors.forename: Shu-Jun
authors.initials: SJ
authors.lastname: Lian
authors.forename: Xiang
authors.initials: X
authors.lastname: Yun
mesh_terms: D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002779:Cholestasis / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D003937:Diagnosis, Differential; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D018160:Receptors, Cytoplasmic and Nuclear / Q000097:blood / Q000235:genetics*; D000099150:Receptor, Farnesoid X-Activated
chemical_list: D015415:Biomarkers; D018388:Codon, Terminator; D018160:Receptors, Cytoplasmic and Nuclear; D000099150:Receptor, Farnesoid X-Activated