title: First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.
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.
authors.affiliation: Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
authors.forename: Ali T
authors.initials: AT
authors.lastname: Al-Hinai
authors.forename: Abdulrahim
authors.initials: A
authors.lastname: Al-Abri
authors.forename: Humoud
authors.initials: H
authors.lastname: Al-Dhuhli
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Waili
authors.forename: Hilal
authors.initials: H
authors.lastname: Al-Sabti
authors.forename: Saif
authors.initials: S
authors.lastname: Al-Yaarubi
authors.forename: Khamis
authors.initials: K
authors.lastname: Al-Hashmi
authors.forename: Yajnavalka
authors.initials: Y
authors.lastname: Banerjee
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Zakwani
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Rasadi
mesh_terms: D000125:Achilles Tendon / Q000000981:diagnostic imaging; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001055:Apolipoproteins B / Q000097:blood; D001384:Azetidines / Q000627:therapeutic use; D015415:Biomarkers / Q000097:blood; D001781:Blood Component Removal; D002340:Carotid Artery Diseases / Q000235:genetics; D059168:Carotid Intima-Media Thickness; D002648:Child; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004252:DNA Mutational Analysis; D004338:Drug Combinations; D005091:Exons; D005128:Eye Diseases / Q000235:genetics; D000069438:Ezetimibe; D005260:Female; D005464:Fluorobenzenes / Q000627:therapeutic use; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D009850:Oman; D010375:Pedigree; D010641:Phenotype; D011743:Pyrimidines / Q000627:therapeutic use; D011973:Receptors, LDL / Q000235:genetics*; D000068718:Rosuvastatin Calcium; D017384:Sequence Deletion; D013449:Sulfonamides / Q000627:therapeutic use; D016896:Treatment Outcome; D014280:Triglycerides / Q000097:blood; D014973:Xanthomatosis / Q000235:genetics
chemical_list: D000924:Anticholesteremic Agents; D001055:Apolipoproteins B; D001384:Azetidines; D015415:Biomarkers; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D004338:Drug Combinations; D005464:Fluorobenzenes; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C573412:LDLR protein, human; D011743:Pyrimidines; D011973:Receptors, LDL; D013449:Sulfonamides; D014280:Triglycerides; D000068718:Rosuvastatin Calcium; D002784:Cholesterol; D000069438:Ezetimibe