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
Feb 11, 1992·European Journal of Clinical Investigation·F U BeilU Beisiegel
May 16, 1990·Biochemical and Biophysical Research Communications·C CrecchioG Pepe
Oct 1, 1989·The Journal of Clinical Investigation·S S FojoH B Brewer
Oct 1, 1988·Journal of Medical Genetics·D W CoxP N Ray
Nov 1, 1988·The Journal of Clinical Investigation·S S FojoH B Brewer
Dec 1, 1987·The Journal of Clinical Investigation·P W ConnellyJ A Little
Feb 1, 1986·The Journal of Clinical Investigation·G BaggioM L Kashyap
Oct 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·S S FojoH B Brewer
Sep 1, 1993·European Journal of Clinical Investigation·C GabelliG Baggio
Apr 1, 1994·The Journal of Clinical Investigation·N S ShachterJ L Breslow
Jun 30, 1993·Biochemical and Biophysical Research Communications·H InaderaS Yoshida
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
Dec 2, 2010·Transgenic Research·Yinyuan DingEnqi Liu
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
Citations
Mar 2, 2016·Lipids in Health and Disease·Jingjing JiangXin Gao
Jan 5, 2020·Journal of Cellular and Molecular Medicine·Peng HanSantasree Banerjee
Apr 14, 2020·The Application of Clinical Genetics·Gabriel D Pinilla-MonsalveJosé A Nastasi-Catanese
Jun 21, 2018·Lipids in Health and Disease·Xiaoyao LiJieshou Li
Jan 23, 2021·Current Opinion in Endocrinology, Diabetes, and Obesity·Gissette Reyes-Soffer
Aug 18, 2020·Molecular Therapy. Methods & Clinical Development·Chun YangXunde Xian
Jun 21, 2020·Metabolism: Clinical and Experimental·Mingming GaoXunde Xian
Nov 19, 2020·Cell Reports Medicine·Allegra KaufmanTim Rolph