Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China

World J Gastroenterol. 2014 Jan 7;20(1):326-9. doi: 10.3748/wjg.v20.i1.326.

Abstract

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.

Keywords: Arthrogryposis, renal dysfunction and cholestasis syndrome; Cholestasis; Gene; Mutation; VPS33B.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • China
  • Cholestasis / diagnosis
  • Cholestasis / genetics*
  • DNA Mutational Analysis
  • Exons
  • Failure to Thrive
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Liver Failure / genetics
  • Mutation*
  • Pedigree
  • Phenotype
  • Renal Insufficiency / diagnosis
  • Renal Insufficiency / genetics*
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS33B protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome