title: A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Jiang
authors.affiliation: Institute of Cardiovascular Science, Peking University and Key laborotory of Molecular Cardiovascular Science, Ministry of Education, Beijing, China.
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ling
authors.affiliation: Institute of Cardiovascular Science, Peking University and Key laborotory of Molecular Cardiovascular Science, Ministry of Education, Beijing, China.
authors.forename: Abudurexiti
authors.initials: A
authors.lastname: Kayoumu
authors.affiliation: Institute of Cardiovascular Science, Peking University and Key laborotory of Molecular Cardiovascular Science, Ministry of Education, Beijing, China.
authors.forename: George
authors.initials: G
authors.lastname: Liu
authors.affiliation: Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China. zhongshan_endo@126.com.
authors.forename: Xin
authors.initials: X
authors.lastname: Gao
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D053304:Apolipoprotein C-II / Q000737:chemistry / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006493:Heparin; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000150:complications* / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000097:blood; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010195:Pancreatitis / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence
chemical_list: D053304:Apolipoprotein C-II; D008055:Lipids; D006493:Heparin; D008071:Lipoprotein Lipase