Rare <scp>LPL</scp> gene missense mutation in an infant with hypertriglyceridemia

Qin, Yuanyuan; Wei, Aiqiu; Shan, Qing-Wen; Xian, Xiaoying; Wu, Yangyang; Liao, Lin; Yan, Jie; Lai, Zhan-feng; Lin, Faquan

doi:10.1002/jcla.22414

Cited by 6 publications

(3 citation statements)

References 31 publications

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“…After transfecting Leu279Arg cDNA in COS-1 cells, Chan et al did not detect LPL activity in the cell culture medium and lysate. It was speculated that Leu279Arg could influence the stability of LPL dimers and cause the lack of mutant protein secretion [ 31 ]. The heparin-binding site of LPL is located at residues 279–282 and 292–304 in the N-terminal region; Leu279Arg is located in the N-terminal heparin-binding region.…”

Section: Discussionmentioning

confidence: 99%

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

2021

BMC Pediatr

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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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Section: Discussionmentioning

confidence: 99%

“…If the process is disturbed, LPL cannot be outside of the cell and exert its lipolytic activity. Qin et al reported a Chinese family with high plasma triglycerides linked to Leu279Arg heterozygous mutation [ 31 ]. In this family, both sister and the father were carriers of the Leu279Arg heterozygous mutation.…”

Section: Discussionmentioning

confidence: 99%

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

2021

BMC Pediatr

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“…LPL is produced in adipocytes and (cardio)myocytes and is transported by the endothelium-derived protein GPIHBP1 to the capillary surface, where it acts to hydrolyze plasma TG ( 10 , 11 ). In line with its rate-limiting role in TG uptake, mutations in LPL are associated with severe hypertriglyceridemia in humans and mice ( 12 , 13 ). The activity of LPL in different tissues is meticulously regulated to match the mobilization of TG-derived fatty acids to the local tissue demand ( 7 ).…”

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confidence: 99%