脊髓小脑共济失调3型伴多囊肾家系的临床特征和基因突变分析  

Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease

作　　者：李海江[1] 张林明[1] 陈涛[1] 杨丹[1] 朱杨帆 王丽红[1] 

机构地区：[1]昆明医科大学第一附属医院神经科,650032

出　　处：《中华医学遗传学杂志》2015年第1期60-63,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1个脊髓小脑共济失调3型（spinocerebellar ataxia3，SCA3）伴多囊肾病（polycystic kidney disease，PKD）家系的临床特征和致病基因突变进行研究。方法应用PCR扩增、DNA测序等技术分析该家系成员SCA3基因第10外显子，PKDI、PKD2基因所有外昆子及荩邻近DNA系列片段，同时分析该家系患者的临床特征。结果先证者SCA3基因CAG重复次数为28／76，一个等位基因的重复次数在全突变范围，其PKDl基因第23外显子发现序列异常。先证者临床症状严重，表现为严重的共济失调、锥体柬征、Meige综合征、抑郁症和高血压。结论遗传性脊髓小脑共济失调3型和常染色体最性多囊肾病可同时发生在一个家系，基因检测是主要的确诊于段。Objective To investigate clinical features and genetic mutations of a family affected with spinoeerebellar ataxia 3 and polycystic kidney disease. Methods Polymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene, in addition with all exons and flanking sequences of PKD1 and PKD2 genes. The clinical features were also carefully analyzed. Results The numbers of CAG repeat in the proband＇s SCA3 gene were 28/76, with the number of repeats in the mutant allele being in the full range. The sequence of exon 23 of the PKD1 gene was also found to be abnormal. Clinical symptoms of the prohand were very serious, which were characterized by obvious ataxia, pyramidal signs, Meige syndrome, depression and high blood pressure. Conclusion Hereditary spinocerebellar ataxia 3 and autonomic dominant polyeystie kidney disease may co-occur, and genetic testing is the primary means of diagnosis.

关 键 词：脊髓小脑共济失调 多囊肾 三核苷酸重复 SCA3/MJD基因 PKD1基因 PKD2基因 突变 

分 类 号：R744.7[医药卫生—神经病学与精神病学]