First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene

Ali T Al-Hinai; Abdulrahim Al-Abri; Humoud Al-Dhuhli; Khalid Al-Waili; Hilal Al-Sabti; Saif Al-Yaarubi; Khamis Al-Hashmi; Yajnavalka Banerjee; Ibrahim Al-Zakwani; Khalid Al-Rasadi

doi:10.1177/0003319712465171

First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene

Angiology. 2013 May;64(4):287-92. doi: 10.1177/0003319712465171. Epub 2012 Nov 15.

Authors

Ali T Al-Hinai¹, Abdulrahim Al-Abri, Humoud Al-Dhuhli, Khalid Al-Waili, Hilal Al-Sabti, Saif Al-Yaarubi, Khamis Al-Hashmi, Yajnavalka Banerjee, Ibrahim Al-Zakwani, Khalid Al-Rasadi

Affiliation

¹ Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.

PMID: 23162007
DOI: 10.1177/0003319712465171

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.

Publication types

Case Reports

MeSH terms

Achilles Tendon / diagnostic imaging
Anticholesteremic Agents / therapeutic use
Apolipoproteins B / blood
Azetidines / therapeutic use
Biomarkers / blood
Blood Component Removal
Carotid Artery Diseases / genetics
Carotid Intima-Media Thickness
Child
Cholesterol / blood
Cholesterol, HDL / blood
Cholesterol, LDL / blood
DNA Mutational Analysis
Drug Combinations
Exons
Eye Diseases / genetics
Ezetimibe
Female
Fluorobenzenes / therapeutic use
Frameshift Mutation*
Genetic Predisposition to Disease
Homozygote
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
Hyperlipoproteinemia Type II / blood
Hyperlipoproteinemia Type II / diagnosis
Hyperlipoproteinemia Type II / genetics*
Hyperlipoproteinemia Type II / therapy*
Oman
Pedigree
Phenotype
Pyrimidines / therapeutic use
Receptors, LDL / genetics*
Rosuvastatin Calcium
Sequence Deletion*
Sulfonamides / therapeutic use
Treatment Outcome
Triglycerides / blood
Xanthomatosis / genetics

Substances

Anticholesteremic Agents
Apolipoproteins B
Azetidines
Biomarkers
Cholesterol, HDL
Cholesterol, LDL
Drug Combinations
Fluorobenzenes
Hydroxymethylglutaryl-CoA Reductase Inhibitors
LDLR protein, human
Pyrimidines
Receptors, LDL
Sulfonamides
Triglycerides
Rosuvastatin Calcium
Cholesterol
Ezetimibe