Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis

Eur J Med Genet. 2016 Apr;59(4):237-9. doi: 10.1016/j.ejmg.2016.01.005. Epub 2016 Jan 23.


ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis. Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis.

Keywords: Cholestasis; Mutation; Prenatal diagnosis; Syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / pathology
  • Arthrogryposis / genetics*
  • Arthrogryposis / pathology
  • Child, Preschool
  • Cholestasis / genetics*
  • Cholestasis / pathology
  • Cholestasis, Intrahepatic / genetics
  • Cholestasis, Intrahepatic / pathology
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Prenatal Diagnosis
  • Renal Insufficiency / genetics*
  • Renal Insufficiency / pathology
  • Sequence Analysis, DNA
  • Siblings
  • Vesicular Transport Proteins / genetics*


  • VIPAS39 protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome