Departments of Neuromuscular Disease, Third Hospital of Hebei Medical University, Shijiazhuang, PR China.
Neurology. 2012 May 22;78(21):1644-9. doi: 10.1212/WNL.0b013e3182574f8f. Epub 2012 May 9.
To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family.
We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip.
Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects.
An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype.
在中国的一个家族中发现一种新的遗传性运动神经病（dHMN）的遗传原因，这种疾病也被称为 Charcot-Marie-Tooth 病（CMT）的一种变体。
我们对一个具有 dHMN 的中国家族进行了临床、电生理和遗传研究。我们使用最初设计的微阵列重测序 DNA 芯片筛选了 28 种 CMT 或相关致病基因的突变。
家族史调查显示出常染色体显性遗传模式。该家族的临床特征包括下肢和足部远端肌肉的轻度无力和萎缩，没有明显的感觉受累。电生理研究显示为运动神经病。下肢 MRI 显示腓肠肌和股外侧肌的脂肪浸润明显。所有 4 名受影响的家族成员均存在丙氨酰-tRNA 合成酶（AARS）的杂合错义突变 c.2677G>A（p.D893N），未在 4 名未受影响的成员和对照组中发现。
AARS 突变导致一个中国家族出现 dHMN。AARS 突变不仅导致 CMT 表型，还导致 dHMN 表型。
