本文關(guān)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(guó)際神經(jīng)病學(xué)神經(jīng)外科學(xué)雜志》2017年02期 　論文類(lèi)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(xué)特點(diǎn)并對(duì)相關(guān)文獻(xiàn)進(jìn)行復(fù)習(xí)。方法采用Sanger測(cè)序?qū)κ占?例以精神癥狀為首發(fā)癥狀的該病家系進(jìn)行MMACHC基因突變的檢測(cè)并總結(jié)分析相關(guān)文獻(xiàn)。結(jié)果測(cè)序發(fā)現(xiàn)先證者M(jìn)MACHC基因2號(hào)外顯子的1個(gè)新錯(cuò)義突變(c.160AC)和4號(hào)外顯子的一個(gè)已知錯(cuò)義突變(c.482GA)。通過(guò)文獻(xiàn)復(fù)習(xí)提示,在該病中臨床癥狀以認(rèn)知障礙和精神行為異常最常見(jiàn),MMACHC基因突變以c.609GA和c.271dup A最常見(jiàn)。結(jié)論 MMACHC基因的c.160AC和c.482GA復(fù)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(jiàn)疾病,臨床異質(zhì)性很高,臨床上容易漏診誤診,當(dāng)出現(xiàn)不明原因的精神行為異常時(shí)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(xué)湘雅醫(yī)院神經(jīng)內(nèi)科;醫(yī)學(xué)遺傳學(xué)國(guó)家重點(diǎn)實(shí)驗(yàn)室;蘭州大學(xué)附屬第二醫(yī)院神經(jīng)內(nèi)科;中南大學(xué)湘雅醫(yī)院湖南省神經(jīng)退行性疾病重點(diǎn)實(shí)驗(yàn)室;
【基金】：國(guó)家自然科學(xué)基金(81300980);國(guó)家自然科學(xué)基金重點(diǎn)項(xiàng)目(81130021)
【分類(lèi)號(hào)】：R589;R747.9

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本文編號(hào)：1525004