Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

doi:10.1038/ng.2497

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Article

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Nature genetics - 1 Jan 2013

Cullup Thomas, Kho Ay Lin, Dionisi-Vici Carlo, Brandmeier Birgit, Smith Frances, Urry Zoe, Simpson Michael A, Yau Shu, Bertini Enrico, McClelland Verity, Al-Owain Mohammed, Koelker Stefan, Koerner Christian, Hoffmann Georg F, Wijburg Frits A, ten Hoedt Amber E, Rogers R Curtis, Manchester David, Miyata Rie, Hayashi Masaharu, Said Elizabeth, Soler Doriette, Kroisel Peter M, Windpassinger Christian, Filloux Francis M, Al-Kaabi Salwa, Hertecant Jozef, Del Campo Miguel, Buk Stefan, Bodi Istvan, Goebel Hans-Hilmar, Sewry Caroline A, Abbs Stephen, Mohammed Shehla, Josifova Dragana, Gautel Mathias, Jungbluth Heinz

Abstract excerpt

Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici...

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Identifiers

PMID: 23222957
DOI: 10.1038/ng.2497
PMCID: PMC4012842

Genes

EPG5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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