摘要
目的探讨2例由BCHE基因复合杂合变异导致的丁酰胆碱酯酶缺乏症(BCHED)患儿的临床特征和基因变异分析结果。方法分析2例BCHED患儿临床特征,并行全外显子家系检测,通过生物信息学分析评估变异位点的危害性,并对变异位点进行Sanger测序验证。结果2例BCHED患儿均出现血清胆碱酯酶异常降低及胆红素升高,但无肝功能损伤。患儿1出现新生儿腹泻症状,患儿2出现新生儿黄疸症状。基因检测结果显示,2例患儿BCHE基因均发生复合杂合变异(患儿1为c.401_c.402insA与c.221delC;患儿2为c.401_c.402insA与c.127G>A)。Sanger测序证实存在变异位点,检索ClinVar及HGMD数据库,未见c.221delC及c.127G>A的相关报道。结论通过2例BCHED患儿不同表型及BCHE基因新变异的发现,进一步拓展了该基因变异谱-表型谱。
Objective To investigate the clinical characteristic and genetic variation analysis of 2 cases of neonatal butyrylcholinesterase deficiency(BCHED)caused by compound heterozygous mutation of BCHE gene.Methods Totally,the clinical characteristics of 2 cases of BCHED were analyzed,and trio-based whole-exome sequencing was performed.The harm of variants was evaluated by bioinformatics analysis,which were verified by Sanger sequencing.Results The 2 cases had decreased serum cholinesterase and increased bilirubin,without liver function injure.Case 1 had neonatal diarrhea symptom,and Case 2 had neonatal jaundice symptom.The results of genetic analysis showed that there were compound heterozygous mutations(c.401_c.402insA and c.221delC;c.401_c.402insA and c.127G>A)in BCHE gene in the 2 cases.Sanger sequencing confirmed the existence of mutation.c.221delC and c.127G>A were not reported in ClinVar and HGMD databases,which were new mutations.Conclusions The gene variation and phenotype spectra have further expanded through the discovery of different phenotypes and new variations of BCHE gene in the 2 neonatal cases of BCHED.
作者
王娟
余静
陈珺
郑洪
戴立英
WANG Juan;YU Jing;CHEN Jun;ZHENG Hong;DAI Liying(Department of Neonatology,Anhui Provincial Children's Hospital,Hefei 230051,Anhui,China)
出处
《检验医学》
CAS
2022年第7期610-614,共5页
Laboratory Medicine
基金
西藏自治区自然科学基金组团式援藏医学项目(XZ2017ZR-ZYZ05)。
