晚发型甲基丙二酸尿症合并同型半胱氨酸血症临床及分子遗传学特点研究

发布时间：2018-02-22 18:25

本文关键词： 晚发型甲基丙二酸尿症同型半胱氨酸血症精神行为异常 MMACHC基因新突变　出处：《国际神经病学神经外科学杂志》2017年02期 　论文类型：期刊论文

【摘要】：目的分析1例晚发型甲基丙二酸尿症合并同型半胱氨酸血症家系的临床及分子遗传学特点并对相关文献进行复习。方法采用Sanger测序对收集的1例以精神症状为首发症状的该病家系进行MMACHC基因突变的检测并总结分析相关文献。结果测序发现先证者MMACHC基因2号外显子的1个新错义突变(c.160AC)和4号外显子的一个已知错义突变(c.482GA)。通过文献复习提示,在该病中临床症状以认知障碍和精神行为异常最常见,MMACHC基因突变以c.609GA和c.271dup A最常见。结论 MMACHC基因的c.160AC和c.482GA复合杂合突变是本例患者的病因,MMACHC基因在该病具有致病作用;该疾病属于罕见疾病,临床异质性很高,临床上容易漏诊误诊,当出现不明原因的精神行为异常时宜考虑该诊断。
[Abstract]:Objective to analyze the clinical and molecular genetic characteristics of a family with late onset methylmalonuria associated with homocysteinemia and to review the relevant literature. Methods one patient with mental symptoms was analyzed by Sanger sequencing. The mutation of MMACHC gene was detected in families with symptomatic disease and the related literatures were summarized. Results A new missense mutation in exon 2 of MMACHC gene and a known missense mutation in exon 4 were found by sequencing. Through the review of the literature, The most common mutations of MMACHC gene in the clinical symptoms of the disease were cognitive disorder and mental behavior disorder. Conclusion the mutation of c. 160AC and c. 482GA in MMACHC gene is the etiology of this disease. The disease is a rare disease with high clinical heterogeneity. It is easy to be misdiagnosed clinically. The diagnosis should be considered when there is an abnormal mental behavior of unknown cause.
【作者单位】：中南大学湘雅医院神经内科;医学遗传学国家重点实验室;兰州大学附属第二医院神经内科;中南大学湘雅医院湖南省神经退行性疾病重点实验室;
【基金】：国家自然科学基金(81300980);国家自然科学基金重点项目(81130021)
【分类号】：R589;R747.9

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