一例锥体束受累的丙酮酸脱氢酶E1α缺乏症的 PDHA1基因变异分析
Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1α deficiency and pyramidal tract involvement
目的:对1例表现为发作性共济失调合并锥体束征阳性患者的 PDHA1基因进行变异分析,明确其致病原因并探讨其可能的机制。 方法:应用高通量测序、Sanger测序及SCA动态变异位点检测并分析。结果:患者为青少年男性,表现为发作性共济失调,双侧膝反射亢进,踝阵挛(+)。基因检测结果显示患者的 PDHA1基因发生了c.1159-1162dupAAGT变异,父、母和胞姐未携带此变异,提示为新生变异,而SCA动态变异未见异常,患者确诊为丙酮酸脱氢酶E1α缺乏症。 结论:PDHA1基因c.1159-1162dupAAGT变异可能为患者的致病原因,丙酮酸脱氢酶E1α缺乏症患者表型复杂,极少数可有锥体束受累,可能与早期神经元发育受影响有关。
更多Objective:To explore the genetic basis for a patient with episodic ataxia and pyramidal tract signs.Methods:The patient was subjected to high-throughput sequencing, Sanger sequencing and analysis of dynamic variant site associated with spinocerebellar ataxias (SCA).Results:The patient was an adolescent male presenting with episodic ataxia, bilateral knee hyper-reflexia and ankle clonus. By genetic testing, he was found to harbor a c. 1159-1162dupAAGT variant of PDHA1 gene. The same variant was not found in his parents and elder sister. No abnormalities were found by SCA dynamic variant screening. The patient was diagnosed as pyruvate dehydrogenase E1α deficiency due to variant of the PDHA1 gene. Conclusion:The de novo c. 1159-1162dupAAGT variant of the PDHA1 gene probably underlies the disease in the proband. Patients with pyruvate dehydrogenase E1α deficiency have complex phenotypes and very few have pyramidal tract involvement, which may be attributed to abnormal early neuronal development.
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