| 一个线粒体DNA耗竭综合征家系临床及DGUOK基因分析 |
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| 引用本文： | 贾程芳,彭薇,杨晓,杨尧. 一个线粒体DNA耗竭综合征家系临床及DGUOK基因分析[J]. 中华医学遗传学杂志, 2020, 0(4): 410-414 |
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| 作者姓名： | 贾程芳 彭薇 杨晓 杨尧 |
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| 作者单位： | 浙江大学医学院附属邵逸夫医院内分泌科;中国人民解放军总医院第七医学中心八一儿童医院、出生缺陷防控关键技术国家工程实验室、儿童器官功能衰竭北京市重点实验室 |
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| 基金项目： | 国家重点研发计划(2016YFC1000707)。 |
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| 摘 要： | 目的对一个线粒体DNA耗竭综合征家系进行遗传基因变异分析,探讨其分子发病机制。方法提取家系中患者及其父母外周血基因组DNA,采用高通量测序技术检测致病基因变异,并对变异进行Sanger测序验证。结果发现患者DGUOK基因存在c.505_508delTATC的纯合变异,父母都是该位点的杂合变异携带者。c.505_508delTATC为未见报道的新变异位点,造成169位氨基酸由酪氨酸(Y)变异为精氨酸(R),随后编码框改变,在199位翻译提前终止,理论上产生截短蛋白p.Y169Rfs31X。结论c.505_508delTATC为DGUOK基因致病性变异,扩展了DGUOK基因变异谱。
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| 关 键 词： | 线粒体DNA耗竭综合征 DGUOK基因 基因变异 新生儿 |
Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome |
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| Jia Chengfang,Peng Wei,Yang Xiao,Yang Yao. Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome[J]. Chinese journal of medical genetics, 2020, 0(4): 410-414 |
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| Authors: | Jia Chengfang Peng Wei Yang Xiao Yang Yao |
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| Affiliation: | (Department of Endocrinology and Metabolism,Sir Run Run Shaw Hospital School of Medicine,Zhejiang University,Hangzhou,Zhejiang 310016,China;Bayi Children’s Hospital,the Seventh Medical Center of PLA General Hospital,National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology,Beijing Key Laboratory of Pediatric Organ Failure,Beijing 100700,China) |
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| Abstract: | Objective To explore the molecular etiology for a Chinese family with mitochondrial DNA depletion syndrome.Methods Genomic DNA was extracted from peripheral blood samples of the patient and her parents.Targeted capture and next-generation sequencing was carried out to detect potential variants.Suspected variant was validated by Sanger sequencing.Result A novel homozygous frameshift variant c.505_508delTATC was identified in the patient,for which both his mother and father were carriers.Conclusion The frameshift variant c.505_508delTATC probably underlies the mitochondrial DNA depletion syndrome in this patient.The result also enriched the variant spectrum of DGUOK gene. |
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| Keywords: | Mitochondrial DNA depletion syndrome DGUOK gene Gene variant Newborn |
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