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

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.