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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 40 Issue 10
Oct.  2024
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Article Contents

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

DOI: 10.12449/JCH241023
Research funding:

Joint Logistics Support Force Scientific Research Project (LB20211A010024)

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  • Corresponding author: YOU Shaoli, youshaoli1972@163.com (ORCID: 0000-0001-8689-8509)
  • Received Date: 2024-02-04
  • Accepted Date: 2024-03-01
  • Published Date: 2024-10-25
  • Serum cholinesterase (ChE) level is important for the diagnosis and prognostic evaluation of various diseases such as liver diseases and toxic diseases, and butyrylcholinesterase (BuChE) is an important component of ChE. Mutations in the BCHE gene can cause a significant reduction in the level of BuChE, with extensive reports in European and American populations and relatively few reports in Eastern countries, particularly China. This study describes a male patient, aged 35 years, who was misdiagnosed with organophosphorus pesticide poisoning due to an extreme reduction in ChE level and was given detoxification therapy, but such diagnosis was excluded by various biochemical examinations. Finally whole-exome sequencing and Sanger sequencing revealed the complex heterozygous mutations of c.1027dup and c.401dup at exon 2 of the BCHE gene, and hereditary BuChE deficiency due to these mutations is the cause of the extreme reduction in ChE level.

     

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