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A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis

Xiu-Qi Chen1, Lin-Lin Wang, Qing-Wen Shan

  • 1Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning, 530021, Guangxi, China.

World Journal of Pediatrics : WJP
|June 3, 2011
PubMed

Insights

A novel NR1H4 gene mutation (R176X) was identified in one infant with idiopathic infantile cholestasis. This genetic finding aids in diagnosing and understanding the prognosis of this liver disease in infants.

Area of Science:

  • Genetics
  • Pediatric Hepatology
  • Molecular Biology

Background:

  • Idiopathic infantile cholestasis (IIC) is a serious liver condition in infants.
  • Genetic factors are implicated in IIC pathogenesis.
  • The NR1H4 gene's role in IIC requires further investigation.

Purpose of the Study:

  • To investigate the genetic contribution of the NR1H4 gene to the development of IIC.
  • To identify potential genetic markers for IIC in a Chinese population.

Main Methods:

  • Genomic DNA was extracted from 78 IIC patients and 95 controls.
  • Polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP) were used to analyze NR1H4 gene exons.
  • PCR products with abnormal bands were sequenced.

Main Results:

  • A novel heterozygous termination codon mutation, NR1H4 R176X (CGA-TGA), was identified in one IIC patient.
  • The patient with the R176X mutation exhibited severe liver dysfunction, including high bilirubin, ALT, GGT, cirrhosis, and ascites.
  • No NR1H4 mutations were detected in other patients or controls.

Conclusions:

  • A heterozygous termination codon mutation in NR1H4 (R176X) is associated with IIC.
  • This novel mutation provides a characteristic marker for differential diagnosis of IIC.
  • The NR1H4 R176X mutation may influence the prognosis of IIC.
Abstract

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