A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis

Lipids in Health and Disease
Jingjing JiangXin Gao

Abstract

The severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene. Lipid profiles of the pedigree were studied in detail. LPL and HL activity were also measured. The coding regions of 5 candidate genes (namely LPL, APOC2, APOA5, LMF1, and GPIHBP1) were sequenced using genomic DNA from peripheral leucocytes. The ApoE gene was also genotyped. Serum triglyceride level was extremely high in the proband, compared with other family members. Plasma LPL activity was also significantly reduced in the proband. Serum ApoCII was very low in the proband as well as in the heterozygous mutation carriers. A novel mutation (c.86A > CC) was identified on exon 3 [corrected] of the APOC2 gene, which converted the Asp [corrected] codon at position 29 into Ala, followed by a termination codon (TGA). This study presented the first case of ApoCII deficiency in the Chinese population, with a novel mutation c.86A > CC in the APOC2 gene identified. Serum ApoCII protein might be a useful screening test for identifying mutation carriers.

References

Dec 28, 1978·The New England Journal of Medicine·D W CoxJ A Little
Jun 8, 1978·The New England Journal of Medicine·W C BreckenridgeM Poapst
May 16, 1990·Biochemical and Biophysical Research Communications·C CrecchioG Pepe
Oct 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·S S FojoH B Brewer
Apr 1, 1994·The Journal of Clinical Investigation·N S ShachterJ L Breslow
Mar 12, 1999·Arteriosclerosis, Thrombosis, and Vascular Biology·M C JongL M Havekes
Mar 24, 2000·Pharmacotherapy·A M HeckK A Calis
Jan 17, 2002·The American Journal of Cardiology·Anthony S WierzbickiMartin A Crook
Jun 5, 2003·Annals of Neurology·Callum J WilsonSebastiano Calandra
Sep 13, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Ching-Wan LamSui-Fan Tong
Jan 14, 2012·Journal of Internal Medicine·R P SurendranG M Dallinga-Thie
Nov 18, 2015·The Journal of Pharmacology and Experimental Therapeutics·Toshihiro SakuraiAlan T Remaley

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Citations

Apr 14, 2020·The Application of Clinical Genetics·Gabriel D Pinilla-MonsalveJosé A Nastasi-Catanese
Jan 23, 2021·Current Opinion in Endocrinology, Diabetes, and Obesity·Gissette Reyes-Soffer

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