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.Arg116Pro)和c.472T＞G (p.Tyr158Asp)复合杂合变异,父亲携带c.347G＞C(p.Arg116Pro)杂合变异,母亲携带c.472T＞G (p.Tyr158Asp)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.Arg116Pro)和c.472T＞G(p.Tyr158Asp)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.

abstractsObjective 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.347G＞ 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.