A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene

VernacularTitle: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
Author: Lisha ZHU ¹ ; Guinan LI
Author Information

1. 湖南省儿童医院新生儿科
Keywords: Lipoprotein lipase deficiency; LPL gene; Novel variant; Neonate
From: Chinese Journal of Medical Genetics 2020;37(2):156-158
CountryChina
Language:Chinese
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.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.