在一个患有哈雷尔-尤恩综合征的家庭中,ATAD3A基因变异
Yi Zheng1, Xinyu Yu2, Ting Zhang3
1Department of Genetic and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. 22318424@zju.edu.cn.
概括
哈雷尔-尤恩综合征是一种罕见的遗传性疾病,在新生儿中表现为严重的代谢和心脏问题. 通过基因检测进行早期诊断对于了解这种致命的婴儿疾病至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 生物化学 生物化学
背景情况:
- 哈雷尔-尤恩综合征是一种严重的,往往致命的,影响新生儿的遗传性疾病.
- 临床表现包括代谢性化症,高乳糖血症和心脏异常.
研究的目的:
- 报告一个新生儿患有哈雷尔-尤恩综合征的病例.
- 在受影响的兄弟姐妹中确定疾病的遗传基础.
主要方法:
- 临床检查和实验室测试,包括双重质谱.
- 通过超声波和MRI进行心脏成像.
- 整体外基因组测序用于遗传变异识别.
主要成果:
- 新生儿出现咳,食困难,高乳糖血症,心脏损伤标志物升高,心肌缩性心肌病.
- 协奏式质谱检测显示了高水平的八甲基卡尼丁和十甲基卡尼丁.
- 在两个受影响的兄弟姐妹中发现了ATAD3A基因 (c.1492dup和c.1376T>C) 中的复合异质合体变异.
结论:
- 在ATAD3A中发现的基因变异证实了哈雷尔-尤恩综合征的诊断.
- 该研究强调了与这种疾病相关的严重临床表型和早期死亡率.
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