Clinical characteristic and genetic variation analysis of compound heterozygous mutation of BCHE gene leading to neonatal butyrylcholinesterase deficiency

doi:10.3969/j.issn.1673-8640.2022.07.002

Abstract

Abstract:

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.

Key words: Butyrylcholinesterase, BCHE gene, Heterozygous mutation, Butyrylcholinesterase deficiency

CLC Number:

Q556

WANG Juan, YU Jing, CHEN Jun, ZHENG Hong, DAI Liying. Clinical characteristic and genetic variation analysis of compound heterozygous mutation of BCHE gene leading to neonatal butyrylcholinesterase deficiency[J]. Laboratory Medicine, 2022, 37(7): 610-614.

Figures/Tables 3

References 17

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病例	血细胞比容/ %	血红蛋白/（g/L）	白细胞计数/（×10⁹/L）	中性粒细胞百分比/%	淋巴细胞百分比/%	单核细胞百分比/%	嗜酸性粒细胞百分比/%	嗜碱性粒细胞百分比/%
患儿1	40.5	136	11.61	36.0	44.8	14.6	4.1	0.50
患儿2	47.2	110	13.32	42.0	35.6	8.8	5.1	0.40
参考区间	37~50	170~200	15~20	41~70	24~48	1~5	1~5	0~1
病例	血小板计数/（×10⁹/L）	红细胞计数/（×10¹²/L）	网织红细胞百分比/%	钙/ （mmol/L）	磷/ （mmol/L）	钾/ （mmol/L）	总蛋白/ （g/L）	白蛋白/ （g/L）
患儿1	551	4.2	0.008	2.77	1.70	5.69	68.1	46.2
患儿2	620	3.7	0.005	2.49	2.30	5.40	72.0	50.6
参考区间	100~300	5.2~6.4	0.005~0.015	2.2~2.6	0.8~1.6	3.5~5.5	60~82	30~55
病例	球蛋白/ （g/L）	ALT/ （IU/L）	AST/ （IU/L）	TB/ （μmol/L）	DBil/ （μmol/L）	IBil/ （μmol/L）	γ-谷氨酰基转移酶/（IU/L）	胆碱酯酶/ （U/L）
患儿1	21.9	29.0	45.0	74.0	11.2	62.8	78	149
患儿2	31.2	50.0	30.0	97.0	18.8	102.2	110	32
参考区间	25~35	5~60	10~60	2~21	0~8	2~18	0~50	4 000~13 000

病例	血细胞比容/ %	血红蛋白/（g/L）	白细胞计数/（×10⁹/L）	中性粒细胞百分比/%	淋巴细胞百分比/%	单核细胞百分比/%	嗜酸性粒细胞百分比/%	嗜碱性粒细胞百分比/%
患儿1	40.5	136	11.61	36.0	44.8	14.6	4.1	0.50
患儿2	47.2	110	13.32	42.0	35.6	8.8	5.1	0.40
参考区间	37~50	170~200	15~20	41~70	24~48	1~5	1~5	0~1
病例	血小板计数/（×10⁹/L）	红细胞计数/（×10¹²/L）	网织红细胞百分比/%	钙/ （mmol/L）	磷/ （mmol/L）	钾/ （mmol/L）	总蛋白/ （g/L）	白蛋白/ （g/L）
患儿1	551	4.2	0.008	2.77	1.70	5.69	68.1	46.2
患儿2	620	3.7	0.005	2.49	2.30	5.40	72.0	50.6
参考区间	100~300	5.2~6.4	0.005~0.015	2.2~2.6	0.8~1.6	3.5~5.5	60~82	30~55
病例	球蛋白/ （g/L）	ALT/ （IU/L）	AST/ （IU/L）	TB/ （μmol/L）	DBil/ （μmol/L）	IBil/ （μmol/L）	γ-谷氨酰基转移酶/（IU/L）	胆碱酯酶/ （U/L）
患儿1	21.9	29.0	45.0	74.0	11.2	62.8	78	149
患儿2	31.2	50.0	30.0	97.0	18.8	102.2	110	32
参考区间	25~35	5~60	10~60	2~21	0~8	2~18	0~50	4 000~13 000