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

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 patien...

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Main Authors: Cullup, Thomas (Author) , Kho, Ay L. (Author) , Dionisi-Vici, Carlo (Author) , Brandmeier, Birgit (Author) , Smith, Frances (Author) , Urry, Zoe (Author) , Simpson, Michael A. (Author) , Yau, Shu (Author) , Bertini, Enrico (Author) , McClelland, Verity (Author) , Al-Owain, Mohammed (Author) , Kölker, Stefan (Author) , Körner, Christian (Author) , Hoffmann, Georg F. (Author) , Wijburg, Frits A. (Author) , Hoedt, Amber E. ten (Author) , Rogers, Curtis (Author) , Manchester, David (Author) , Miyata, Rie (Author) , Hayashi, Masaharu (Author) , Said, Elizabeth (Author) , Soler, Doriette (Author) , Kroisel, Peter M. (Author) , Windpassinger, Christian (Author) , Filloux, Francis M. (Author) , Al-Kaabi, Salwa (Author) , Hertecant, Jozef (Author) , Del Campo, Miguel (Author) , Buk, Stefan (Author) , Bodi, Istvan (Author) , Goebel, Hans-Hilmar (Author) , Sewry, Caroline A. (Author) , Abbs, Stephen (Author) , Mohammed, Shehla (Author) , Josifova, Dragana (Author) , Gautel, Mathias (Author) , Jungbluth, Heinz (Author)
Format: Article (Journal)
Language:English
Published: 2013
In: Nature genetics
Year: 2013, Volume: 45, Issue: 1, Pages: 83-87
ISSN:1546-1718
DOI:10.1038/ng.2497
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.2497
Verlag, lizenzpflichtig, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4012842/
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Author Notes:Thomas Cullup, Ay L. Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis M. Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, Istvan Bodi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, and Heinz Jungbluth

MARC

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520 |a 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 patients. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homologue of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies demonstrated a severe block of autophagosomal clearance in muscle and fibroblasts from EPG5 mutant patients, resulting in autophagic cargo accumulation in autophagosomes. These findings indicate Vici syndrome as a paradigm of a human multisystem disorder associated with defective autophagy, and suggest a fundamental role of the autophagy pathway in the anatomical and functional formation of organs such as the brain, the heart and the immune system. 
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