Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children
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- 作者：Faisal A. Al-Allafa ; b ; c ; 1 ; fallaf@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author ; Abdullah Alashwald ; 1 ; Zainularifeen Abduljaleela ; b ; 1 ; Mohiuddin M. Tahera ; b ; Shahid S. Siddiquie ; Abdellatif Bouazzaouia ; b ; Hala Abalkhaild ; Rakan Auna ; Ahmad F. Al-Allaff ; Iman AbuMansoura ; Zohor Azhara ; Faisal A. Ba-Hammama ; Wajahatullah Khang ; Mohammad Athara ; b ; 1 ; mabedar@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author
- 关键词：Familial hypercholesterolemia (FH) ; Low-density lipoprotein receptor (LDLR) ; Atherosclerosis ; MD simulation ; Arab ; Saudi Arabia ; Frameshift mutation ; PCR ; Protein structure ; Cholesterol ; Genetics ; Coronary heart diseases (CHD)
- 刊名：Genomics
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：107
- 期：1
- 页码：24-32
- 全文大小：1113 K
文摘
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We describe severely affected homozygous FH patients who were managed on an LDL-apheresis program.
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We identified a recurrent frameshift mutation p.(G676Afs*33) in LDLR gene in 9 probands and their relatives.
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Identified mutation could affect the LDLR structure in a region involved in dimer formation, and protein stability.
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A recurrent mutation causing FH in the Saudi population could serve to develop a rapid genetic screening procedure for FH.
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The 3D-structure analysis of the mutant LDLR may provide tools to develop a mechanistic model of the LDLR function.