Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
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DOI：
10.1086/375039
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发表时间：
2003-05-01
影响因子：
9.8
通讯作者：
Green, ED
中科院分区：
文献类型：
--
作者：
Antonellis, A;Ellsworth, RE;Green, ED
腓骨肌萎缩症2D型（CMT 2D）和远端脊髓性肌萎缩症V型（dSMA-V）是以常染色体显性方式遗传的轴突周围神经病。我们之前的遗传和物理作图工作将负责基因定位在人类染色体7 p上的一个明确定义的区域。在这里，我们报告的四个疾病相关的错义突变的甘氨酰tRNA合成酶基因的CMT 2D和dSMA-V的家庭的鉴定。这是第一个例子的氨酰tRNA合成酶被牵连在人类遗传性疾病，这使得基因编码这些酶相关的候选人为其他遗传性神经病和运动神经元疾病。
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.