Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
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DOI：
10.1111/j.1529-8027.2012.00370.x
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发表时间：
2012-03-01
影响因子：
3.8
通讯作者：
Mathews, Katherine D.
中科院分区：
文献类型：
--
作者：
Eskuri, Jamie M.;Stanley, Christine M.;Mathews, Katherine D.
GARS 基因突变会导致 2D 腓骨肌萎缩症和 V 型远端脊髓性肌萎缩症等位基因疾病，其特征主要是远端上肢无力和萎缩，通常在生命的第二个十年开始。我们报道了同卵双胞胎女孩在婴儿期出现无力，并且之前报道过反密码子结合域内的 GARS 突变。这些女孩的表型与报告的病例的严重性和显着相似性表明，反密码子结合域内的突变比 GARS 其他域内的突变对氨酰 tRNA 合成酶功能的损害更大。
Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We report monozygotic twin girls with onset of weakness in infancy and a previously reported GARS mutation within the anticodon-binding domain. The severity and remarkable similarity in phenotypes of these girls and the reported case suggest that mutations within the anticodon-binding domain are more damaging to aminoacyl tRNA synthetase function than those within other domains of GARS.