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BCHE基因复合杂合突变引起胆碱酯酶极度降低1例报告

吕飒 朱冰 徐天娇 游绍莉

引用本文:
Citation:

BCHE基因复合杂合突变引起胆碱酯酶极度降低1例报告

DOI: 10.12449/JCH241023
基金项目: 

联勤保障部队科研项目 (LB20211A010024)

伦理学声明:本例报告已获得患者知情同意。
利益冲突声明:本文不存在任何利益冲突。
作者贡献声明:吕飒负责课题设计,资料分析,撰写论文;朱冰、徐天娇参与收集数据,修改论文;游绍莉负责拟定写作思路,指导撰写文章并最后定稿。
详细信息
    通信作者:

    游绍莉, youshaoli1972@163.com (ORCID: 0000-0001-8689-8509)

The extreme reduction in cholinesterase caused by compound heterozygous mutations in the BCHE gene: A case report

Research funding: 

Joint Logistics Support Force Scientific Research Project (LB20211A010024)

More Information
  • 摘要: 血清胆碱酯酶(ChE)水平对于肝脏疾病、中毒性疾病等多种疾病的诊断、预后判断有重要意义,丁酰胆碱酯酶是其中重要的组成成分。BCHE基因突变可引起丁酰胆碱酯酶水平明显下降,在欧美人群报道较多,但在东方尤其中国报道较少。本研究描述了1例35岁男性因ChE水平极度降低被误诊为有机磷农药中毒并给予解毒治疗,但经过多项生化检查排除,最终通过基因全外显子测序及Sanger测序,确认为BCHE基因2号外显子存在c.1027dup和c.401dup两处复合杂合突变,所致的遗传性丁酰胆碱酯酶缺乏症是其外周血ChE水平极度降低的原因。

     

  • 图  1  全外显子测序及Sanger测序结果

    注: a,患者BCHE基因杂合携带突变c.1027dup 和c.401dup;b,患者及其父亲BCHE基因存在c.1027dup(p.T343NfsTer8)杂合突变,其母未携带;c,患者及其母亲BCHE基因存在c.401dup(p.N134KfsTer24)杂合突变,其父未携带。

    Figure  1.  Whole-exome sequencing and Sanger sequencing results

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  • 收稿日期:  2024-02-04
  • 录用日期:  2024-03-01
  • 出版日期:  2024-10-25
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