Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
复制标题
在一名日本 Vici 综合征患者中发现的新型复合杂合 EPG5 突变，包括外显子 1 区域的错义突变和微重复
DOI：
10.1002/ajmg.a.40500
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发表时间：
2018
影响因子：
2
通讯作者：
Yamamoto Toshiyuki
中科院分区：
文献类型：
--
作者：
Shimada Shino;Hirasawa Kyoko;Takeshita Akiko;Nakatsukasa Hidetsugu;Yamamoto-Shimojima Keiko;Imaizumi Taichi;Nagata Satoru;Yamamoto Toshiyuki
Vici syndrome is a rare, autosomal recessive, multisystem disorder, characterized by agenesis of the corpus callosum, cataracts, psychomotor delay, cardiomyopathy, hypopigmentation, and recurrent infections. Mutations in the ectopic P‐granules autophagy protein 5 homolog gene (EPG5), which encodes a key autophagy regulator, are responsible for this syndrome. A 3‐year‐old Japanese girl manifesting similar symptoms to those found in patients with Vici syndrome showed intractable diarrhea, rather than immunodeficiency. Whole exome sequencing identified only a heterozygous variant inEPG5, NM_020964.2(EPG5):c.3389A > C (p.His1130Pro), which was inherited from her mother. Sequencing analyses of theEPG5messenger RNA showed only an altered nucleotide “C” at position, c.3389, indicating decreased expression of the wild‐type allele. Microarray‐based comparative genomic hybridization revealed a de novo microduplication in the exon 1 region. Large exon deletions and duplications ofEPG5have never been reported so far. This was considered the cause of the decreased expression of the wild‐type allele. In conclusion, we successfully identified novel compound heterozygous mutations inEPG5in a patient who was clinically considered to have Vici syndrome.
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
影响因子：
2
作者：
Ehmke N;Parvaneh N;Krawitz P;Ashrafi MR;Karimi P;Mehdizadeh M;Krüger U;Hecht J;Mundlos S;Robinson PN
通讯作者：
Robinson PN
影响因子：
2
作者：
Finocchi, Andrea;Angelino, Giulia;Dionisi-Vici, Carlo
通讯作者：
Dionisi-Vici, Carlo