Ahmed, S., Ahmed, A., Albalawi, A., Alharby, Z., Alharby, E., Makki, A., Mahmoud, H., Basit, S. (2019). A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families. test, 11(3), 31-37. doi: 10.21608/eajbsc.2019.47020
Samia Mز Ahmed; Ahmed Mز Ahmed; Alia Mز Albalawi; Zainab Alharby; Essa Alharby; Ahmed Sز Makki; Housham Bز Mahmoud; Sulman Basit. "A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families". test, 11, 3, 2019, 31-37. doi: 10.21608/eajbsc.2019.47020
Ahmed, S., Ahmed, A., Albalawi, A., Alharby, Z., Alharby, E., Makki, A., Mahmoud, H., Basit, S. (2019). 'A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families', test, 11(3), pp. 31-37. doi: 10.21608/eajbsc.2019.47020
Ahmed, S., Ahmed, A., Albalawi, A., Alharby, Z., Alharby, E., Makki, A., Mahmoud, H., Basit, S. A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families. test, 2019; 11(3): 31-37. doi: 10.21608/eajbsc.2019.47020

A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families

Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology
Article 3, Volume 11, Issue 3, December 2019, Pages 31-37    PDF (1.05 M)
Document Type: Original Article
DOI: 10.21608/eajbsc.2019.47020
Authors
Samia Mز Ahmed1; Ahmed Mز Ahmed1; Alia Mز Albalawi2; Zainab Alharby3; Essa Alharby2; Ahmed Sز Makki4; Housham Bز Mahmoud4; Sulman Basit2
1Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Taibah University, AL Madinah, Saudi Arabia
2Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia
3College of Medicine, Taibah University Almadinah, Saudi Arabia
4Future Lab Medical Laboratories, Makkah, Saudi Arabia
Abstract
Familial hypercholesterolemia (FH) is an autosomal codominant, life-threatening inherited condition. FH is characterized by an increased blood level of low-density lipoprotein cholesterol (LDL-C). Patients with FH are at serious risk of developing premature atherosclerotic cardiovascular disease. Association of FH with genetic variants in three genes (APOB, LDLR, and PCSK9) is well established, however, the data related to mutation spectrum and prevalence of FH in Saudi population is largely missing. Here, we studied two Saudi families segregating FH in an autosomal dominant manner. All exons and intro-exons junctions of three candidate genes (APOB, LDLR, and PCSK9) were sequenced using Sanger approach. Data analysis identified variants in exon 14 (c.1853C>T; p.Ala618Val) and exon 29 (c.13013G>A; p.Ser4338Asn) of the APOB gene in both families. Both variants perfectly segregating with FH phenotype in families. The variant (c.13013G>A) is located in the well-established active site of apolipoprotein B, thus, it might influence the enzyme activity. In conclusion, we found homozygosity for variant in APOB in families segregating FH. This study expanded the mutational spectrum of APOB in FH. In addition, the present study provided additional evidence that supports the important involvement of apolipoprotein B dysregulation in Saudi FH patients.
Keywords
Hypercholesterolemia; APOB; Saudi families; Mutation; Homozygous variant; Exon 7
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