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Zahedan Journal of Research in Medical Sciences

Published by: Kowsar

The First Report of GAC>AAC Mutation in Familial Hypercholesterolemia in Khuzestan

Marzieh Nikkhooy 1 , * , Ali Mohammad Foroughmand 1 , Hamid Galehdari 1 and Saeed Yazdankhah 2
Authors Information
1 Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
2 Cardiovascular Research Center, Golestan Hospital, Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran
Article information
  • Zahedan Journal of Research in Medical Sciences: August 2018, 20 (8); e6642
  • Published Online: October 28, 2018
  • Article Type: Case Report
  • Received: May 1, 2016
  • Revised: July 26, 2018
  • Accepted: August 28, 2018
  • DOI: 10.5812/zjrms.6642

To Cite: Nikkhooy M, Foroughmand A M, Galehdari H, Yazdankhah S. The First Report of GAC>AAC Mutation in Familial Hypercholesterolemia in Khuzestan, Zahedan J Res Med Sci. 2018 ; 20(8):e6642. doi: 10.5812/zjrms.6642.

Copyright © 2018, Zahedan Journal of Research in Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Sharifi M, Rakhit RD, Humphries SE, Nair D. Cardiovascular risk stratification in familial hypercholesterolaemia. Heart (BMJ J). 2016:1-6.
  • 2. Vuorio A, Tikkanen MJ, Kovanen PT. Inhibition of hepatic microsomal triglyceride transfer protein-a novel therapeutic option for treatment of homozygous familial hypercholesterolemia. Vasc Health Risk Manag. 2014;10:263-70. doi: 10.2147/VHRM.S36641. [PubMed: 24851052]. [PubMed Central: PMC4018418].
  • 3. Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum. Mol Genet Metab. 2008;93(3):282-94. doi: 10.1016/j.ymgme.2007.10.007. [PubMed: 18023224].
  • 4. Kamerkar S. Familial Hypercholesterolemia with an update on role of Mipomersen in its management. Am J Med Dent Sci. 2013;1(1):10-20.
  • 5. Rai AK, Debetto P, Sala FD. Molecular regulation of cholesterol metabolism: HDL-based intervention through drugs and diet. Indian J Exp Biol. 2013;51(11):885-94. [PubMed: 24416922].
  • 6. Soufi M, Kurt B, Schweer H, Sattler AM, Klaus G, Zschocke J, et al. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-Marburg p.W556R. Atheroscler Suppl. 2009;10(5):5-11. doi: 10.1016/s1567-5688(09)71802-1.
  • 7. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. National Lipid Association Expert Panel on Familial, Hypercholesterolemia Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 Suppl):S1-8. doi: 10.1016/j.jacl.2011.04.003. [PubMed: 21600525].
  • 8. Arnett DK, Baird AE, Barkley RA, Basson CT, Boerwinkle E, Ganesh SK, et al. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: A scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational Biology Interdisciplinary Working Group. Circulation. 2007;115(22):2878-901. doi: 10.1161/CIRCULATIONAHA.107.183679. [PubMed: 17515457].
  • 9. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: New insights in pathogenesis and treatment. J Clin Invest. 2003;111(12):1795-803. doi: 10.1172/JCI18925. [PubMed: 12813012]. [PubMed Central: PMC161432].
  • 10. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354(12):1264-72. doi: 10.1056/NEJMoa054013. [PubMed: 16554528].
  • 11. Arca M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S, et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis. The Lancet. 2002;359(9309):841-7. doi: 10.1016/s0140-6736(02)07955-2.
  • 12. Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison. Atherosclerosis. 2006;188(2):398-405. doi: 10.1016/j.atherosclerosis.2005.11.016. [PubMed: 16343504].
  • 13. Henderson R, O’Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016;23(1):39.
  • 14. Maglio C, Mancina RM, Motta BM, Stef M, Pirazzi C, Palacios L, et al. Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing. J Intern Med. 2014;276(4):396-403. doi: 10.1111/joim.12263. [PubMed: 24785115]. [PubMed Central: PMC4369133].
  • 15. Diakou M, Miltiadous G, Xenophontos S, Cariolou M, Heta N, Korita I, et al. Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania. Arch Med Sci. 2010;6(2):198-200. doi: 10.5114/aoms.2010.13894. [PubMed: 22371747]. [PubMed Central: PMC3281340].
  • 16. Alves AC, Medeiros AM, Francisco V, Gaspar IM, Rato Q, Bourbon M. Molecular diagnosis of familial hypercholesterolemia: An important tool for cardiovascular risk stratification. Rev Port Cardiol. 2010;29(6):907-21. [PubMed: 20964105].
  • 17. Sharifi M, Walus-Miarka M, Idzior-Walus B, Malecki MT, Sanak M, Whittall R, et al. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism. 2016;65(3):48-53. doi: 10.1016/j.metabol.2015.10.018. [PubMed: 26892515]. [PubMed Central: PMC4766367].
  • 18. Vieira JR, Whittall RA, Cooper JA, Miller GJ, Humphries SE. The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men. Ann Hum Genet. 2006;70(Pt 6):697-704. doi: 10.1111/j.1469-1809.2006.00294.x. [PubMed: 17044844].
  • 19. Wang J, Huff E, Janecka L, Hegele RA. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Hum Mutat. 2001;18(4):359. doi: 10.1002/humu.1205. [PubMed: 11668627].

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