Ann Lab Med.  2017 Jul;37(4):355-358. 10.3343/alm.2017.37.4.355.

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency

Affiliations
  • 1Genetic Division, Western Biomedical Research Center, Mexican Institute of Social Security, Guadalajara, Jalisco, Mexico. maganamt@gmail.com
  • 2Doctorate Program in Human Genetics, Health Sciences University Center, University of Guadalajara, Guadalajara, Jalisco, Mexico.
  • 3Autonomous University of Guadalajara, Guadalajara, Mexico.
  • 4Pediatric Hospital of the Public Health Institute of the State of Guanajuato, Guanajuato, Mexico.

Abstract

No abstract available.


MeSH Terms

Female*
Humans
Hyperlipoproteinemia Type I*
Lipoprotein Lipase*
Lipoproteins*
Lipoprotein Lipase
Lipoproteins

Figure

  • Fig. 1 Familial pedigree and DNA sequencing results. (A) Pedigree constructed through personal interviews. Index case's parents (IV-5 and IV-17) are consanguineous, sharing a common ancestor three generations back. Eleven relatives of the index case were heterozygous for p.Gly188Glu LPL mutation. Individuals I-2, II-2, II-3, III-3, and III-7 were not studied, but they were obligate carriers of the p.Gly188Glu mutation. Electropherograms from IV-2, IV-17, and V-5 showed the three possible genotypes, (B) wild-type homozygote p.Gly188Gly, (C) heterozygote, and (D) mutant homozygote p.Glu188Glu, respectively.Abbreviation: aa, amino acid.


Reference

1. Kolářová H, Tesařová M, Švecová Š, Stránecký V, Přistoupilová A, Zima T, et al. Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. Folia Biol (Praha). 2014; 60:235–243. PMID: 25863041.
2. Rahalkar AR, Giffen F, Har B, Ho J, Morrison KM, Hill J, et al. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Can J Physiol Pharmacol. 2009; 87:151–160. PMID: 19295657.
3. Ooi EM, Russell BS, Olson E, Sun SZ, Diffenderfer MR, Lichtenstein AH, et al. Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations. Arterioscler Thromb Vasc Biol. 2012; 32:459–466. PMID: 22095987.
4. Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6. Ann Genet. 2001; 44:25–32. PMID: 11334614.
5. The 1000 genomes browser. Accessed on Jul 016. www.ncbi.nlm.nih.gov/variation/tools/1000genomes/?q=rs118204057.
6. Peterson J, Ayyobi AF, Ma Y, Henderson H, Reina M, Deeb SS, et al. Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. J Lipid Res. 2002; 43:398–406. PMID: 11893776.
7. Wittrup HH, Tybjaerg-Hansen A, Nordestgaard BG. Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis. Circulation. 1999; 99:2901–2907. PMID: 10359734.
8. Goldberg IJ, Eckel RH, McPherson R. Triglycerides and heart disease: still a hypothesis? Arterioscler Thromb Vasc Biol. 2011; 31:1716–1725. PMID: 21527746.
9. Scott LJ. Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. Drugs. 2015; 75:175–182. PMID: 25559420.
10. Kniery KR, Kay JT, Escobar MA. The fatty spleen: Severe hypertriglyceridemia leading to splenomegaly in a child. J Pediatr Surg Case Rep. 2017; 17:25–27.
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr