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, sa.4, ss.487-490, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.04.019
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.487-490
  • Anahtar Kelimeler: arthrogryposis, cholestasis, neonate, renal dysfunction, RENAL DYSFUNCTION, CHOLESTASIS SYNDROME, ARTHROGRYPOSIS, MUTATIONS, VPS33B, MANIFESTATIONS, PHENOTYPE
  • Karadeniz Teknik Üniversitesi Adresli: Evet

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)].