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Year : 2018  |  Volume : 7  |  Issue : 1  |  Page : 37

A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia

1 Department of Genetics, Faculty of Medicine; Medical Genetics Research Center, Yazd, Iran
2 Yazd Clinical and Research Center for Infertility, Yazd, Iran
3 Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
4 Yazd Cardiovascular Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5 Department of Genetics, Faculty of Medicine; Yazd Clinical and Research Center for Infertility, Yazd, Iran

Correspondence Address:
Dr. Ehsan Farashahi Yazd
Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences Campus, Shohadaye Gomnam Blvd., 8915173143, Yazd
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-9175.225927

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Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene. Samples with shift in resultant HRM curves were compared to normal ones, sequenced, and analyzed. Results: Our findings revealed a missense mutation c. 1246C>T and a known variant IVS9-30C>T (rs1003723) that was recognized in 71% of the patients (22%: homozygous and 49%: heterozygous genotypes). In silico analysis, predicted the pathological effect of the c. 1246C>T mutation in LDLR protein structure, but IVS9-30C>T variant had no predicted effect on splice site and branch point function. Conclusion: FH is a hereditary type of hypercholesterolemia that leads to premature cardiovascular disease and atherosclerosis, and early diagnosis is needed. We detected a rare missense mutation (1246C>T) and a common single nucleotide polymorphism (SNP) in the Iranian population. These reports could help in the genetic diagnosis and counseling of FH patients.

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