本文關鍵詞： 晚發(fā)型 甲基丙二酸尿癥 同型半胱氨酸血癥 精神行為異常 MMACHC基因 新突變　出處：《國際神經(jīng)病學神經(jīng)外科學雜志》2017年02期 　論文類型：期刊論文

【摘要】：目的分析1例晚發(fā)型甲基丙二酸尿癥合并同型半胱氨酸血癥家系的臨床及分子遺傳學特點并對相關文獻進行復習。方法采用Sanger測序?qū)κ占?例以精神癥狀為首發(fā)癥狀的該病家系進行MMACHC基因突變的檢測并總結(jié)分析相關文獻。結(jié)果測序發(fā)現(xiàn)先證者MMACHC基因2號外顯子的1個新錯義突變(c.160AC)和4號外顯子的一個已知錯義突變(c.482GA)。通過文獻復習提示,在該病中臨床癥狀以認知障礙和精神行為異常最常見,MMACHC基因突變以c.609GA和c.271dup A最常見。結(jié)論 MMACHC基因的c.160AC和c.482GA復合雜合突變是本例患者的病因,MMACHC基因在該病具有致病作用;該疾病屬于罕見疾病,臨床異質(zhì)性很高,臨床上容易漏診誤診,當出現(xiàn)不明原因的精神行為異常時宜考慮該診斷。
[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.
【作者單位】： 中南大學湘雅醫(yī)院神經(jīng)內(nèi)科;醫(yī)學遺傳學國家重點實驗室;蘭州大學附屬第二醫(yī)院神經(jīng)內(nèi)科;中南大學湘雅醫(yī)院湖南省神經(jīng)退行性疾病重點實驗室;
【基金】：國家自然科學基金(81300980);國家自然科學基金重點項目(81130021)
【分類號】：R589;R747.9

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