| 新LPL基因复合杂合变异导致的一例新生儿脂蛋白脂肪酶缺乏症 |
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| 引用本文： | 朱俐莎,李贵南. 新LPL基因复合杂合变异导致的一例新生儿脂蛋白脂肪酶缺乏症[J]. 中华医学遗传学杂志, 2020, 0(2): 156-158 |
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| 作者姓名： | 朱俐莎 李贵南 |
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| 作者单位： | 湖南省儿童医院新生儿科 |
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| 摘 要： | 目的明确1例脂蛋白脂肪酶缺乏症新生儿的遗传学病因。方法应用目标区域捕获测序技术对患儿进行遗传代谢疾病相关基因检测,并对可疑变异位点在患儿及其父母进行Sanger测序验证。结果基因检测结果显示患儿LPL基因存在c.347G>C(p.Argll6Pro)和c.472T>G(p.Tyrl58Asp)复合杂合变异,父亲携带c.347G〉C(p・Argll6Pro)杂合变异,母亲携带c.472T>G(p.Tyrl58Asp)杂合变异,因此患儿的变异分别来源于其父母。结论LPL基因c.347G>C(p.Argll6Pro)和c.472T>G(p.Tyrl58Asp)复合杂合变异可能是这例脂蛋白脂肪酶缺乏症新生儿的致病原因。
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| 关 键 词： | 脂蛋白脂肪酶缺乏 LPL基因 新变异 新生儿 |
A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene |
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| Zhu Lisha,Li Guinan. A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene[J]. Chinese journal of medical genetics, 2020, 0(2): 156-158 |
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| Authors: | Zhu Lisha Li Guinan |
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| Affiliation: | (Department of Neonatology,Hunan Provincial Children's Hospital,Changsha,Hunan 410000,China) |
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| Abstract: | Objective To explore the genetic basis for a Chinese neonate with lipoprotein lipase deficiency.Methods Targeted capture and next-generation sequencing(NGS)were carried out to detect variants of genes associated with inborn errors of metabolism.Suspected variants were validated by Sanger sequencing.Results Genetic testing revealed novel complex heterozygous variants,namely c.3470 C(p.Arg116Pro)and c.472T>G(p.Tyr158Asp),of the LPL gene,which were respectively inherited from his father and mother.Conclusion Compound heterozygous variants c.347G>C and c.472T>G of the LPL gene probably underlie the lipoprotein lipase deficiency in this child. |
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| Keywords: | Lipoprotein lipase deficiency LPL gene Novel variant Neonate |
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