伴声带麻痹的X连锁显性遗传腓骨肌萎缩症临床及电生理特点分析.doc

dHMN—V 型一家系BSCL2基因和GARS基因突变分析 李清华 林剑锋 林小慧 陈梅玲 吴岚 【摘要】(distal hereditary motor neuronopathy V, dHMN—V) 家系, 并探讨与BSCL2 （Berardinelli—Seip congenital lipody- strophy 2）基因和GARS基因 (glycyl tRNA synthetase)突变的关系。 方法 对该家系进行临床基因未发现致病突变在内含子区发现个多态分别为C，其中个()为新发现的多态。基因Mutation analysis of BSCL2 and GARS gene in a Chinese family with dHMN—V 【Abstract】Objective To report a Chinese family with distal hereditary motor neuronopathy V (dHMN梀l) and to study its relationship with mutation of BSCL2 (Berardinelli—Seip congenital lipodystrophy 2) gene and GARS (glycyl tRNA synthetase ) gene. Methods Partial family members with dHMN梀t were studied through clinical and electrophysiological examinations, PCR and direct sequencing were used to analyze the mutation of the pathogenic BSCL2 and GARS genes. Result 13 members spanning 5 generations in this family were affected with clinical proable dHMN梀 characterized by adult tonset of weakness, and atrophy of thenar, then hypothenar and dorsal interosseusmuscles of hands progressing to involve foot interosseusmuscles; Cramps of hands can be caused by cold. The electrophysiological data showed decline nerve conduction velocity of motor in the proband. No pathogenetic mutations in the BSCL2 and GARS gene were detected in this family, only three GARS polymorphisms (IVS18+136G→A， IVS17-6C→T and g.-39G C) were found，both IVS18+136G→A and IVS17-6C→T are new polymorphisms. Conclusion The present report also provides further evidence for genetic heterogeneity among the dHMN—V, There may be have an additional site besides BSCL2 and GARS genes. 【Key words】dHMN—V; GARS gene; BSCL2 gene; gene mutation Supported by the National Natural Science Foundation of China(No, the Natural Science Foundation of Guangxi Province (No.Gkz0899014) 远端型遗传性运动神经病（distal hereditary motor neuronopathy, dHMN）又称远端型脊肌萎缩症（distal spinal muscular atrophy , dSMA)或脊髓型腓骨肌萎缩症(spinal Charcot-Marie-Tooth Disease, spinal CMT)，是一组由于脊髓前角运动神经元退行性变导致的，临床表现为肢体远端肌肉进行性萎缩、乏力的神经肌肉疾病，根