DNA连接酶Ⅳ基因突变致DNA连接酶Ⅳ综合征1例基因检测分析

doi:10.35541/cjd.20230305

中华皮肤科杂志 ›› 2024, e20230305.doi: 10.35541/cjd.20230305

DNA连接酶Ⅳ基因突变致DNA连接酶Ⅳ综合征1例基因检测分析

李珂瑶,汤建萍,唐金玲,岳淑珍,谈鑫,韦祝

湖南省儿童医院皮肤科，长沙 410007

收稿日期:2023-05-31 修回日期:2023-10-13 发布日期:2024-02-06
通讯作者: 韦祝 E-mail:34438881@qq.com

Genetic analysis of one case of DNA ligase Ⅳ syndrome caused by DNA ligase Ⅳ gene mutations

Li Keyao, Tang Jianping, Tang Jinling, Yue Shuzhen, Tan Xin, Wei Zhu

Department of Dermatology, Hunan Children′s Hospital, Changsha 410007, China

Received:2023-05-31 Revised:2023-10-13 Published:2024-02-06
Contact: Wei Zhu E-mail:34438881@qq.com

摘要/Abstract

摘要： 【摘要】目的分析1例DNA连接酶Ⅳ综合征患儿的基因变异特点。方法收集患儿的临床资料，应用全外显子组测序对患儿进行基因检测，应用Sanger测序进行家系验证。结果患儿DNA连接酶Ⅳ基因存在3个杂合突变c.467C>T（p.A156V）、c.833G>T（p.R278L）、c.1271-c.1275del（p.K424fs*20），其中c.467C>T（p.A156V）为新发突变。结论 DNA连接酶Ⅳ基因的复杂杂合突变可能为DNA连接酶Ⅳ综合征的遗传学病因。

关键词: DNA连接酶类, 基因检测, DNA连接酶Ⅳ综合征, 重症联合免疫缺陷, DNA连接酶Ⅳ基因

Abstract: 【Abstract】 Objective To analyze gene mutation characteristics of a child with DNA ligase Ⅳ syndrome. Methods Clinical data were collected from a child with DNA ligase Ⅳ syndrome. Whole-exome sequencing was performed to detect gene mutations in the patient, and Sanger sequencing to verify the candidate variants in family members. Results Three heterozygous mutations c.467C>T（p.A156V）, c.833G>T（p.R278L）, c.1271-c.1275del （p.K424fs*20） were identified in the DNA ligase Ⅳ gene of the patient, and the mutation c.467C>T（p.A156V） was confirmed as a novel mutation. Conclusion The complex heterozygous mutations in the DNA ligase Ⅳ gene may contribute to DNA ligase Ⅳ syndrome in the child.

Key words: DNA ligases, Genetic testing, DNA ligase Ⅳ syndrome, Severe combined, immunodeficiency, DNA ligase Ⅳ gene

李珂瑶汤建萍唐金玲岳淑珍谈鑫韦祝. DNA连接酶Ⅳ基因突变致DNA连接酶Ⅳ综合征1例基因检测分析[J]. 中华皮肤科杂志, 2024,e20230305. doi:10.35541/cjd.20230305

Li Keyao, Tang Jianping, Tang Jinling, Yue Shuzhen, Tan Xin, Wei Zhu. Genetic analysis of one case of DNA ligase Ⅳ syndrome caused by DNA ligase Ⅳ gene mutations[J]. Chinese Journal of Dermatology,2024,e20230305. doi:10.35541/cjd.20230305

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DNA连接酶Ⅳ基因突变致DNA连接酶Ⅳ综合征1例基因检测分析

Genetic analysis of one case of DNA ligase Ⅳ syndrome caused by DNA ligase Ⅳ gene mutations

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