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  First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M. R., Karimi, P., Mehdizadeh, M., et al. (2014). First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics Part A, 164A(12), 3170-3175. doi:10.1002/ajmg.a.36772.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-7851-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-7852-6
Genre: Journal Article

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© 2014 John Wiley & Sons, Inc.
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 Creators:
Ehmke, N., Author
Parvaneh, N., Author
Krawitz, P.1, Author
Ashrafi, M. R., Author
Karimi, P., Author
Mehdizadeh, M., Author
Kruger, U., Author
Hecht, J.2, Author              
Mundlos, S.2, Author              
Robinson, P. N., Author
Affiliations:
1Max Planck Society, ou_persistent13              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: agenesis of the corpus callosum, autophagy; cardiomyopathy; developmental delay; EPG5; immunodeficiency; hypopigmentation; Vici syndrome; whole-exome sequencing
 Abstract: Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation. Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis. Following the first description in 1988 by Vici et al., 24 other cases of Vici syndrome have been published with variable expression of the defining features. Here, we report on a further case of Vici syndrome with a homozygous truncating mutation of EPG5, identified by whole-exome sequencing. The mutation in our patient is the first reported affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. Additionally, we present a detailed clinical analysis of Vici syndrome comprising all cases previously described in the literature.

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Language(s): eng - English
 Dates: 2014-10-202014-12
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1002/ajmg.a.36772
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: - Volume / Issue: 164A (12) Sequence Number: - Start / End Page: 3170 - 3175 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465