ARC syndrome


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MUTLU M. , ASLAN Y. , Akturk-Acar F., ÇAKIR M. , ERDURAN E. , KALYONCU M.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, ss.487-490, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 59 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.04.019
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.487-490

Özet

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)].