Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
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DOI：
10.1002/mus.10391
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发表时间：
2003-07-01
期刊：
影响因子：
3.4
通讯作者：
Comi, GP
中科院分区：
文献类型：
--
作者：
Del Bo, R;Baron, P;Comi, GP
udp - n-乙酰氨基葡萄糖胺2- epimase / n-乙酰氨基甘露胺激酶（GNE）基因是常染色体隐性遗传性包涵体肌病（h-IBM）的致病基因。患有常染色体隐性h-IBM的两个姐妹被证明是两个新的ge突变的复合杂合：一个涉及外显子1-9的大缺失，以及一个外显子R162C氨基酸改变。这是在GNE等位基因中观察到的第一个缺失事件，并扩展了常染色体隐性h-IBM的分子发病机制。
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.