A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
复制标题
在丁酰胆碱酯酶活性低的儿童中发现 BCHE 基因和表型的新突变：病例报告
DOI：
10.1186/s12881-018-0561-5
复制
发表时间：
2018-04-10
影响因子：
--
通讯作者：
Deng G
中科院分区：
文献类型：
--
作者：
Yu R;Guo Y;Dan Y;Tan W;Mao Q;Deng G
研究背景丁酰胆碱酯酶(BChE)是一种主要由肝脏产生的酯水解酶，它能降解某些短效的神经肌肉阻滞剂，如琥珀胆碱和米伐他汀，这些药物在麻醉过程中被广泛使用。BChE缺乏症患者可能存在麻醉后呼吸暂停的危险。遗传性BChE缺乏症是由于位于染色体3，3q26.1-q26.2之间的BCHE基因突变所致，该突变位于165、490、692-165、555、260之间。总的来说，这个孩子看起来很健康，发育良好，外表正常。而韦氏智力量表结果显示，全程智商(FIQ)为53，属于轻度缺陷组。BChE活性为32.0U/L，明显低于正常下限(参考范围：5000-1.2万U/L)。Sanger测序显示，该儿童BCHE基因外显子2存在2个突变。一个是杂合突变rs764588882(NM_000055.3：c.401_402insA，p.Asn134Lysfs*23)。另1例为杂合突变(NM_000055.3：C.73A >； T，p.Lys25Ter)，未见报道。结论双重杂合性隐性突变是该男童BChE缺陷的原因，其中包括一种新的突变c.73A >； T。智力障碍是一种新的表型，可能与该突变有关。
BackgroundButyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BChE deficiency are possibly in danger of postanesthetic apnea. Hereditary BChE deficiency results from the mutations of BCHE gene located on chromosome 3, 3q26.1-q26.2, between nucleotides 165,490,692–165,555,260.Case presentationThis study describes a novel mutation in a child with BChE deficiency. In general, this child appeared healthy and well-developed with a normal appearance. However, the results of Wechsler Intelligence Scale showed that the full-scale intelligence quotient (FIQ) was 53, classified into the group with the minor defect. The BChE activity was 32.0 U/L, considerably lower than the normal lower limit (reference range: 5000-12,000 U/L). Sanger sequencing showed that there were 2 mutations in the exon 2 of BCHE gene of this child. One is a heterozygous mutation rs764588882 (NM_000055.3: c.401_402insA, p.Asn134Lysfs*23). The other one is a heterozygous mutation (NM_000055.3: c.73A > T, p.Lys25Ter) that has never been reported before. The two mutations lead to a premature stop of transcription.ConclusionsDouble heterozygous recessive mutations are the cause of BChE deficiency of this boy in this study, including a novel mutation c.73A > T. Intellectual disability is a new phenotype that is probably associated with this mutation.
登录
查看更多内容
影响因子：
4
作者：
GARRY, PJ;DIETZ, AA;RUBINSTEIN, HM
通讯作者：
RUBINSTEIN, HM
影响因子：
64.8
作者：
LIDDELL, J;SILK, E;LEHMANN, H
通讯作者：
LEHMANN, H
影响因子：
2.5
作者：
Moral-Naranjo, MT;Cabezas-Herrera, J;Campoy, FJ
通讯作者：
Campoy, FJ
影响因子：
5.7
作者：
Gruber, M;Lindner, R;Wiesner, G
通讯作者：
Wiesner, G
DOI：
10.1186/1757-1626-2-9148
发表时间：
2009-12-04
期刊：
Cases journal
影响因子：
--
作者：
Zencirci B
通讯作者：
Zencirci B