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BMC Pediatrics

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Open Access 01-12-2021 | Research

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

Authors: Yun Qin Wu, Yue Yuan Hu, Gui Nan Li

Published in: BMC Pediatrics | Issue 1/2021

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 (c.347G > C and c.472 T > G) and a reported homozygous mutation (c.836 T > G) was identified. Interestingly, both the two neonatal onset LPL deficiency patients presented with suffered recurrent infection in the hyperlipidemia stage, which was not usually found in childhood or adulthood onset LPL deficiency patients.

Conclusion

The two novel mutaitons, c.347G > C and c.472 T > G, identified in this study were novel, which expanded the LPL gene mutation spectrum. In addition, suffered recurrent infection in the hyperlipidemia stage implied a certain correlation between immune deficiency and lipid metabolism abnormality. This observation further supplemented and expanded the clinical manifestations of LPL deficiency.

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Title: Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases
Authors: Yun Qin Wu
Yue Yuan Hu
Gui Nan Li
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02875-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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