X-连锁严重联合免疫缺陷综合征家系IL2RG基因突变研究

doi:10.11852/zgetbjzz2018-1134

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (4): 439-442.DOI: 10.11852/zgetbjzz2018-1134

X-连锁严重联合免疫缺陷综合征家系IL2RG基因突变研究

谭建强, 严提珍, 黄钧, 唐宁, 袁德健, 蔡稔

柳州市妇幼保健院医学遗传科,柳州市出生缺陷预防与控制重点实验室,广西柳州 545001

收稿日期:2018-08-23 修回日期:2018-10-29 发布日期:2019-04-20 出版日期:2019-04-20
通讯作者: 蔡稔,E-mail:lzcairen@126.com
作者简介:谭建强(1981-),男,副主任医师,硕士研究生,主要研究方向为儿童单基因疾病及内分泌遗传代谢病。
基金资助:
柳州市科学研究与技术开发计划项目(2014G020404)

Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency

TAN Jian-qiang, YAN Ti-zhen, HUANG Jun, TANG Ning, YUAN De-jian, CAI Ren

Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital,Liuzhou, Guangxi 545001,China

Received:2018-08-23 Revised:2018-10-29 Online:2019-04-20 Published:2019-04-20
Contact: CAI Ren, E-mail:lzcairen@126.com

摘要/Abstract

摘要： 目的对3个临床拟诊X-连锁严重联合免疫缺陷综合征(X-SCID)患儿及父母进行基因突变分析,为遗传咨询及产前诊断提供依据。方法应用高通量测序和直接测序的方法对患儿及家系成员进行白细胞介素-2受体基因(IL2RG)突变检测,分析IL2RG基因外显子区及与外显子交界的部分内含子区域DNA序列改变情况,寻找可能的致病突变位点,并对其中一个家系进行羊水细胞产前诊断。结果家系1、家系2患儿IL2RG基因检测到c.202G>A(p.Glu68Lys)突变,家系3患儿IL2RG基因检测到c.676C>T(p.Arg226Cys)突变,患儿母亲均为相应突变携带者。家系3先证者母亲进行产前诊断胎儿为女性,携带与先证者相同的致病基因,夫妇双方选择继续妊娠。结论通过IL2RG基因检测明确诊断3例X-SCID患儿,并成功对1个X-SCID家系进行产前诊断,指导家系3夫妇选择妊娠。

关键词: X-连锁严重联合免疫缺陷综合征, IL2RG基因, 基因突变

Abstract: Objective To analyze the gene mutations of three male children clinically diagnosed with X-linked severe combined deficiency syndrome(X-SCID), in order to provide evidence for genetic counseling and prenatal diagnosis. Methods Interleukin-2 receptor gene (IL2RG) mutation was detected by whole exome sequencing and direct sequencing in children and family members, and prenatal diagnosis was performed in one of the families. Results The mutation of c.202G>A(p.Glu68Lys)was detected in the IL2RG gene in family 1and family 2,and the mutation of c.676C > T (p.Arg226Cys) was found in IL2RG gene of family 3.The mother of the proband found the fetus as female through prenatal diagnosis, carrying the same pathogenic gene with the proband, but this couple chose to continue the pregnancy. Conclusion Totally 3 cases of X-SCID are diagnosed by IL2RG gene detection, and successful prenatal diagnosis is given to one X-SCID family, thereby giving guidance for pregnancy of family 3.

Key words: X-linked severe combined immunodeficiency, IL2RG gene, gene mutation

中图分类号:

R725

谭建强, 严提珍, 黄钧, 唐宁, 袁德健, 蔡稔. X-连锁严重联合免疫缺陷综合征家系IL2RG基因突变研究[J]. 中国儿童保健杂志, 2019, 27(4): 439-442.

TAN Jian-qiang, YAN Ti-zhen, HUANG Jun, TANG Ning, YUAN De-jian, CAI Ren. Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency[J]. journal1, 2019, 27(4): 439-442.

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X-连锁严重联合免疫缺陷综合征家系IL2RG基因突变研究

Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency

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