A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY
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.

与中国家族常染色体隐性晚发性遗传性远端运动神经病相关的双拷贝 MME 基因新变体
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。
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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
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.
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