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目的报告1个远端型遗传性运动神经病V型(distal hereditary motor neuronopathyV,dHMN-V)家系,并探讨与BSCL2(berardinelli-seip congenital lipody-strophy2)基因和GARS基因(glycyltRNA synthetase)突变的关系。方法对该家系进行临床及电生理检查,并应用PCR直接测序法对先证者及其部分家系成员进行GARS基因全部17个外显子和BSCL2基因3号外显子突变检测。结果该家系5代共13例患者,临床主要表现为成年起病,开始为单或双手大鱼际肌萎缩,逐渐出现小鱼际肌、手部骨间肌萎缩,遇冷挛缩,继而出现足趾骨间肌萎缩;肌电图提示运动神经神经传导速度降低,而感觉神经神经传导速度基本正常;突变分析结果显示该家系BSCL2基因3号外显子糖基化位点无突变,在GARS基因也未发现致病突变,仅在内含子区和外显子非编码区发现3个多态,分别为IVS18+136G→A,IVS17-6C→T和C.-39G>C,其中IVS18+136G→A,IVS17-6C→T为新发现的2个多态。结论 dHMN-V具有临床和遗传异质性,其可能存在除BSCL2基因和GARS基因外的新的基因位点。
Objective To report a familial distant hereditary motor neuronopathy V (dHMN-V) family and to explore the relationship between the mutations of the BSCL2 gene and the GARS gene (glycyltRNA synthetase). METHODS: The clinical and electrophysiological examination of the pedigree was performed. All 17 exons of GARS gene and exon 3 of BSCL2 gene were detected by PCR direct sequencing in probands and some of their pedigrees. Results A total of 13 cases of this family were found in 5 generations. The main clinical manifestations were onset of adult onset, muscle atrophy at the beginning of single or double arm, gradual emergence of small intertidal muscle, interosseous muscular atrophy in hand and cold contracture, The inter-to-interosseous muscle atrophy. Electromyography showed that the motor nerve conduction velocity decreased, but the sensory nerve nerve conduction velocity was normal. The mutation analysis showed that there was no mutation in the exon 3 glycosylation site of BSCL2 gene in this pedigree and no GARS gene Three mutations were found in the non-coding region of intron and exon, respectively, which were IVS18 + 136G → A, IVS17-6C → T and C.-39G> C, among which IVS18 + 136G → A, IVS17-6C → T for the two newly discovered polymorphism. Conclusion The clinical and genetic heterogeneity of dHMN-V may exist, and there may be new gene loci except BSCL2 and GARS.