Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

doi:10.1038/s41598-017-02840-8

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Article

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

Scientific reports - 14 Jun 2017

Hori Ikumi, Otomo Takanobu, Nakashima Mitsuko, Miya Fuyuki, Negishi Yutaka, Shiraishi Hideaki, Nonoda Yutaka, Magara Shinichi, Tohyama Jun, Okamoto Nobuhiko, Kumagai Takeshi, Shimoda Konomi, Yukitake Yoshiya, Kajikawa Daigo, Morio Tomohiro, Hattori Ayako, Nakagawa Motoo, Ando Naoki, Nishino Ichizo, Kato Mitsuhiro, Tsunoda Tatsuhiko, Saitsu Hirotomo, Kanemura Yonehiro, Yamasaki Mami, Kosaki Kenjiro, Matsumoto Naomichi, Yoshimori Tamotsu, Saitoh Shinji

Abstract excerpt

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...

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PMID: 28615637
DOI: 10.1038/s41598-017-02840-8
PMCID: PMC5471274

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EPG5

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.PMID 28615637Read ↗

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Semantic proximity Read ↗

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.Semantic proximity Read ↗

Vici syndrome: a review.Semantic proximity Read ↗

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5</i> and review of the literatureSemantic proximity Read ↗

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.Semantic proximity Read ↗

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Semantic proximity Read ↗

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.Semantic proximity Read ↗

An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.Semantic proximity Read ↗

Progressive neuroinflammation and deficits in motor function in a mouse model with an <i>Epg5</i> pathogenic variant of Vici syndromeSemantic proximity Read ↗

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.Semantic proximity Read ↗

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disordersSemantic proximity Read ↗

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