ARC syndrome

Turk J Pediatr. 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019.

Abstract

Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A > C (c.97-2A > C)].

Keywords: arthrogryposis; cholestasis; neonate; renal dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • Cholestasis / diagnosis
  • Cholestasis / genetics*
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Mutation
  • Renal Insufficiency / diagnosis
  • Renal Insufficiency / genetics*
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS33B protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome