家族性肌萎缩侧索硬化症10型的临床特征和基因突变分析

发布时间：2018-02-28 11:08

本文关键词： 家族性肌萎缩侧索硬化症 TARDBP基因 TDP- 点突变　出处：《中山大学学报(医学科学版)》2017年04期 　论文类型：期刊论文

【摘要】：【目的】探讨家族性肌萎缩侧索硬化症10型患者的临床特点、分子遗传学特征。【方法】对2013年中山大学附属第一医院神经科门诊就诊发现的该病家系行高通量测序法检测其TARDBP基因外显子突变类型。【结果】该家系中3代共5例患者,每代均有患者且男女都有发病,符合常染色体显性遗传特征。该家系患者于50岁左右起病,病情进展迅速,从出现临床症状到最终死亡仅为8~18个月左右。TARDBP基因检测结果显示,先证者的exon6发生了c.892 GA的杂合突变,另在第3代家系其他成员中,检测发现了3人携带与先证者相同的突变类型,但目前尚未发病。【结论】家族性肌萎缩侧索硬化症10型是一类病情进展迅速、生存时期短暂的运动神经元疾病。目前无有效治疗方法,对患者进行遗传咨询并对其下一代的出生进行产前诊断,遗传咨询和中断遗传链是防治该病的关键措施。
[Abstract]:[objective] to investigate the clinical characteristics of familial amyotrophic lateral sclerosis type 10, [methods] High throughput sequencing method was used to detect the mutation type of TARDBP gene exon in the outpatient clinic of Department of Neurology, first affiliated Hospital of Sun Yat-sen University in 2013. [results] there were 5 patients in 3 generations of this family. Each generation of patients and both men and women had the disease, which was in accordance with the autosomal dominant genetic characteristics. The patient in this family began to develop rapidly at the age of 50 years. From the onset of clinical symptoms to the final death, the detection results of .TARDBP gene only showed that the incidence of the disease was about 8 ~ 18 months. The exon6 of the proband had a heterozygous mutation of c. 892GA. In other members of the third generation family, three individuals were found to be carrying the same mutation type as the proband. [conclusion] familial amyotrophic lateral sclerosis type 10 is a kind of motor neuron disease with rapid progression and short survival period. Genetic counseling and prenatal diagnosis of the birth of the next generation are the key measures to prevent and cure the disease.
【作者单位】：中山大学附属第一医院保健科;中山大学附属第一医院神经科;
【基金】：国家自然科学基金(81471280;81601087,81271401) 国家自然科学基金-广东省联合基金重点资助项目(U1032004) 广东省科技计划项目(2014A020212130,2013B021800115,2011A030400006) 广州市科技计划项目产学研协同创新重大专项(1561000153/201508020012)
【分类号】：R744.8

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