Ontology highlight
ABSTRACT:
SUBMITTER: Hori I
PROVIDER: S-EPMC5471274 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Hori Ikumi I Otomo Takanobu T Nakashima Mitsuko M Miya Fuyuki F Negishi Yutaka Y Shiraishi Hideaki H Nonoda Yutaka Y Magara Shinichi S Tohyama Jun J Okamoto Nobuhiko N Kumagai Takeshi T Shimoda Konomi K Yukitake Yoshiya Y Kajikawa Daigo D Morio Tomohiro T Hattori Ayako A Nakagawa Motoo M Ando Naoki N Nishino Ichizo I Kato Mitsuhiro M Tsunoda Tatsuhiko T Saitsu Hirotomo H Kanemura Yonehiro Y Yamasaki Mami M Kosaki Kenjiro K Matsumoto Naomichi N Yoshimori Tamotsu T Saitoh Shinji S
Scientific reports 20170614 1
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle ...[more]