Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

ABSTRACT:

Background

Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features of neonatal LPL deficiency and to analyze the genetic characteristics of LPL gene.

Methods

In order to reach a definite molecular diagnose, metabolic diseases-related genes were sequenced through gene capture and next generation sequencing. Meanwhile, the clinical characteristics and follow-up results of the two newborns were collected and analyzed.

Results

Three different mutations in the LPL gene were identified in the two newborns including a novel compound heterozygous mutation

SUBMITTER: Wu YQ 

PROVIDER: S-EPMC8451144 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature