Article
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Journal of medical case reports - 13 Feb 2022
Satomura Yoshinori, Bessho Kazuhiko, Nawa Nobutoshi, Kondo Hidehito, Ito Shogo, Togawa Takao, Yano Masanao, Yamano Yuki, Inoue Taisuke, Fukui Miho, Onuma Shinsuke, Fukuoka Tomoya, Yasuda Kie, Kimura Takeshi, Tachibana Makiko, Kitaoka Taichi, Nabatame Shin, Ozono Keiichi
Abstract excerpt
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent infections and bleeding by the age of 1 year. We report the first Japanese cases with ARCS1 and ARCS2 who presented with mild phenotypes and were diagnosed via genetic testing....
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