The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population

Fairoozy, R. H. and Futema, M. and Vakili, R. and Abbaszadegan, M. R. and Hosseini, S. and Aminzadeh, M. and Zaeri, H. and Mobini, M. and Humphries, S. E. and Sahebkar, A. (2017) The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. Scientific Reports, 7 (1).

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH. In this study, we analysed the genetic spectrum of the disease in subjects from the Iranian population with a clinical diagnosis of FH. Samples were collected from 16 children and family members from five different cities of Iran. Probands were screened for mutations in the LDLR, APOB, and PCSK9 genes using next generation sequencing, with results confirmed by Sanger sequencing. The likely pathology of identified variants was examined using in silico tools. Of the probands, 14 had a clinical diagnosis of homozygous FH and two of heterozygous FH. No mutations were found in either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutations, with p.(Trp577Arg) occurring in three and p.Val806Glyfs∗11 occurring in two patients. Two mutations were novel: p.(Leu479Gln) and p.(Glu668∗). Seven probands with a clinical diagnosis of FH were mutation negative. This pilot study, integrating clinical and molecular-based techniques, begins to elucidate the FH heterogeneity and the mutation spectrum in the Iranian population. Such information is important for future disease management and cost savings. © 2017 The Author(s).

Item Type: Article
Additional Information: Cited By :6 Export Date: 16 February 2020 Correspondence Address: Humphries, S.E.; Cardiovascular Genetics, Institute of Cardiovascular Science, University College LondonUnited Kingdom; email:
Uncontrolled Keywords: apolipoprotein B low density lipoprotein receptor PCSK9 protein, human proprotein convertase 9 adolescent Asian continental ancestry group child DNA sequence familial hypercholesterolemia female genetics high throughput sequencing human Iran male pedigree pilot study preschool child Apolipoproteins B Child, Preschool High-Throughput Nucleotide Sequencing Humans Hyperlipoproteinemia Type II Pilot Projects Receptors, LDL Sequence Analysis, DNA
Subjects: WH Hemic and Lymphatic System
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib3 lib3
Date Deposited: 23 May 2020 05:27
Last Modified: 23 May 2020 05:27

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