Zhu Lisha, Li Guinan
Department of Neonatology, Hunan Provincial Children's Hospital, Changsha, Hunan 410000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):156-158. doi: 10.3760/cma.j.issn.1003-9406.2020.02.014.
To explore the genetic basis for a Chinese neonate with lipoprotein lipase deficiency.
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.
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.
Compound heterozygous variants c.347G>C and c.472T>G of the LPL gene probably underlie the lipoprotein lipase deficiency in this child.
