Document Detail

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
MedLine Citation:
PMID:  25331754     Owner:  NLM     Status:  Publisher    
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. © 2014 Wiley Periodicals, Inc.
Nadja Ehmke; Nima Parvaneh; Peter Krawitz; Mahmoud-Reza Ashrafi; Parviz Karimi; Mehrzad Mehdizadeh; Ulrike Krüger; Jochen Hecht; Stefan Mundlos; Peter N Robinson
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-20
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-21     Completed Date:  -     Revised Date:  2014-10-22    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 Wiley Periodicals, Inc.
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