Bentuo Zhang, Qiang Gang, Lingchao Meng, Zhenyu Li, Xujun Chu, Haohao Wu, Junsu Yang, Baogang Huang, Kang Du
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引用次数: 0
Abstract
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chinese families, respectively. Next-generation sequencing and nerve conduction studies were performed for two probands. The probands in two families presented with the muscle weakness and wasting of both lower limbs and carried a c.2122 A > T (p.K708*) and c.1342 C > T&c.2071_2072delinsTT (p.R448*&p.A691L) variant, respectively. Prominently axonal impairment of motor nerves and slight involvement of sensory nerves were observed in nerve conduction study. Our study reported a "novel" nonsense mutation and a missense variant of autosomal recessive late-onset dHMN and reviewed reported MME variants associated with dHMN phenotype.
远端遗传性运动神经病(dHMN)是一组异质性疾病,以往的研究报道复合杂合子隐性MME变体可导致dHMN。我们的研究在两个中国家庭中分别发现了一个新的同源MME变体和一个已报道的复合杂合子MME变体。研究人员对两个探查者进行了新一代测序和神经传导研究。两个家族中的探究者均表现为双下肢肌无力和肌萎缩,分别携带c.2122 A > T (p.K708*)和c.1342 C > T&c.2071_2072delinsTT (p.R448*&p.A691L)变异。在神经传导研究中观察到运动神经轴突明显受损,感觉神经轻微受累。我们的研究报告了常染色体隐性晚发型dHMN的一个 "新型 "无义突变和一个错义变异,并回顾了已报告的与dHMN表型相关的MME变异。
期刊介绍:
BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.