First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
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首次描述因影响 EPG5 倒数第二个外显子的突变而患有 Vici 综合征的患者并回顾文献
DOI：
10.1002/ajmg.a.36772
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发表时间：
2014
影响因子：
2
通讯作者：
Robinson PN
中科院分区：
文献类型：
--
作者：
Ehmke N;Parvaneh N;Krawitz P;Ashrafi MR;Karimi P;Mehdizadeh M;Krüger U;Hecht J;Mundlos S;Robinson PN
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 geneEPG5as the cause of Vici syndrome.EPG5is 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 ofEPG5, identified by whole‐exome sequencing. The mutation in our patient is the first reported affecting the penultimate exon ofEPG5and 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.
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Atg5 独立的巨自噬的生理作用
DOI：
--
发表时间：
2014
期刊：
影响因子：
--
作者：
Tsutsumi YM;Tsutsumi R;Hamaguchi E;Sakai Y;Kasai A;Ishikawa Y;Yokoyama U;and Tanaka K.;Shimizu S
通讯作者：
Shimizu S
DOI：
10.1093/bioinformatics/bts462
发表时间：
2012-10-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Kamphans T;Krawitz PM
通讯作者：
Krawitz PM
Vici 综合征——一种快速进展的神经退行性疾病，伴有色素沉着不足、免疫缺陷和肌肉活检的肌病改变
DOI：
--
发表时间：
2012
期刊：
American Journal of Medical Genetics. Part A
影响因子：
--
作者：
E. Said;D. Soler;C. Sewry
通讯作者：
C. Sewry
影响因子：
64.8
作者：
Nishino, I;Fu, J;Hirano, M
通讯作者：
Hirano, M
影响因子：
13.3
作者：
Taneike, Manabu;Yamaguchi, Osamu;Otsu, Kinya
通讯作者：
Otsu, Kinya