Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
复制标题
DOI：
10.1016/j.clineuro.2006.09.008
复制
发表时间：
2007-04-01
影响因子：
1.9
通讯作者：
Huang, Chin-Chang
中科院分区：
文献类型：
--
作者：
Chu, Chun-Che;Kuo, Hung-Chou;Huang, Chin-Chang
目的：对远端空泡肌病(DMRV)的研究发现，大多数患者存在UDP-N-乙酰氨基葡萄糖2-差向异构酶/N-乙酰甘露糖激酶(GNE)基因突变。然而，GNOE突变与临床特征之间的相关性尚不完全清楚。1目的：报道DMRV患者的临床特征与基因分析的相关性。患者和方法：对2例来自台湾地区的DMRV患者的临床表现、组织病理学、影像检查和基因分析进行分析。结果：两例患者均为同世代的DMRV患者，分别检测到两个复合杂合性突变：IIe 241 Ser和Arg 246 Gln，位于同一代。此外，姐姐还表现出进行性肌营养不良的病程，并伴有严重的股四头肌和躯干肌受累。结论：Gne基因下异构体结构域的复合杂合性突变在DMRV的严重表型中起重要作用。然而，导致这种表型异质性的机制仍有待阐明。(C)2006年，爱思唯尔出版。
Objectives: Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood. 1Purposes: To report the correlation between the clinical features and genetic analysis of DMRV patients.Patients and methods: The clinical presentations, histopathological findings, image studies, and genetic analyses of two patients with DMRV from a Taiwanese family were studied.Results: Two compound heterozygous mutations, IIe 241 Ser and Arg 246 Gln, located in the epimerase domain, were identified in both patients, who were of the same generation. In addition, the elder sister showed a progressive muscular dystrophy course with severe quadriceps and trunk muscle involvement.Conclusion: The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV. However, the mechanisms leading to this phenotypic heterogeneity still remain to be elucidated. (c) 2006 Published by Elsevier B.V.