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一例青少年期发病的脊髓小脑性共济失调3型的临床及基因检测分析
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Abstract:
目的：本研究旨在通过详细报道1例经PCR + 毛细管电泳基因检测确诊的青少年期发病的脊髓小脑性共济失调3型，以增强临床医师对该疾病的诊断认识。方法：分析1例青少年期发病的脊髓小脑性共济失调3型患者的临床资料及两次不同的基因检测结果。结果：先证者为15岁女性，其在15岁时出现共济失调、腱反射亢进等症状。对患者应用高通量测序技术揭示，患者ZFYVE26基因具有c.7487G>A p.Arg2496Gln的杂合突变；此外，通过PCR + 毛细管电泳进行基因检测，发现患者ATXN3基因中CAG重复数目分别是32和80次。结论：本例脊髓小脑型共济失调3型与遗传性痉挛性截瘫表现出一些交叉症状，但PCR + 毛细管电泳基因检测对两种疾病的鉴别诊断具有重要意义。
Objective: The purpose of this study was to report in detail a case of spinocerebellar ataxia type 3 diagnosed by PCR + capillary electrophoresis gene detection, so as to enhance the diagnostic understanding of clinicians. Methods: The clinical data of one adolescent patient with spinocerebellar ataxia type 3 and the results of two different gene tests were analyzed. Results: The proband was a 15-year-old female with ataxia, tendon hyperreflexia and other clinical symptoms. High-throughput sequencing revealed that the ZFYVE26 gene of the patient had A heterozygous mutation of c.7487G>A p.Arg2496Gln. In addition, genetic detection by PCR + capillary electrophoresis showed that the number of CAG repeats in ATXN3 gene was 32 and 80, respectively. Conclusion: There are some cross-symptoms between spinocerebellar ataxia type 3 and hereditary spastic paraplegia in this case, but PCR + capillary electrophoresis is of great significance in the differential diagnosis of the two diseases.
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