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47020

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

Article

Last updated: 22 Jan 2023

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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.

DOI

10.21608/eajbsc.2019.47020

Keywords

Hypercholesterolemia, APOB, Saudi families, Mutation, Homozygous variant, Exon 7

Authors

First Name

Samia

Last Name

Ahmed

MiddleName

Affiliation

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Taibah University, AL Madinah, Saudi Arabia

Email

smmohammed@taibahu.edu.sa

City

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Orcid

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First Name

Ahmed

Last Name

Ahmed

MiddleName

Affiliation

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Taibah University, AL Madinah, Saudi Arabia

Email

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City

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Orcid

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First Name

Alia

Last Name

Albalawi

MiddleName

Affiliation

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia

Email

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City

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Orcid

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First Name

Zainab

Last Name

Alharby

MiddleName

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Affiliation

College of Medicine, Taibah University Almadinah, Saudi Arabia

Email

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City

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Orcid

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First Name

Essa

Last Name

Alharby

MiddleName

-

Affiliation

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia

Email

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City

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Orcid

-

First Name

Ahmed

Last Name

Makki

MiddleName

Affiliation

Future Lab Medical Laboratories, Makkah, Saudi Arabia

Email

-

City

-

Orcid

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First Name

Housham

Last Name

Mahmoud

MiddleName

Affiliation

Future Lab Medical Laboratories, Makkah, Saudi Arabia

Email

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City

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Orcid

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First Name

Sulman

Last Name

Basit

MiddleName

-

Affiliation

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia

Email

-

City

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Orcid

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Volume

11

Article Issue

3

Related Issue

6929

Issue Date

2019-12-01

Receive Date

2019-07-02

Publish Date

2019-12-01

Page Start

31

Page End

37

Print ISSN

2090-0767

Online ISSN

2090-083X

Link

https://eajbsc.journals.ekb.eg/article_47020.html

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https://eajbsc.journals.ekb.eg/service?article_code=47020

Order

3

Type

Original Article

Type Code

673

Publication Type

Journal

Publication Title

Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology

Publication Link

https://eajbsc.journals.ekb.eg/

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Article

Created At

22 Jan 2023