Heterozygous c.1730G > C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

 Mustafa Doğan¹, Mehmet Koksal², Recep Eroz³

 

¹Malatya Turgut Özal University Medical Faculty, Department of Medical Genetics, Malatya, Turkey
²Erciyes University Medical Faculty, Department of Biochemistry, Kayseri,Turkey
³Aksaray University Medical Faculty, Department of Medical Genetics, Aksaray, Turkey

 

SUMMARY

  

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes.

Case report: A 4-year-old male patient with a very rare heterozygous c.1730G > C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed.

Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results.

 

Keywords: familial hypercholesterolemia, case report, LDLR gene, xanthomas

  

Corresponding author:

Mehmet Koksal

e-mail: mekoksal@hotmail.com