Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report
Chamoieva A.E. Mirmanova Z.Z. Zhalbinova M.R. Rakhimova S.E. Daniyarov A.Z. Kairov U.Y. Baigalkanova A.I. Mukarov M.A. Bekbossynova M.S. Akilzhanova A.R.
November 2024Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
2024#25Issue 22
Familial hypercholesterolemia is an autosomal hereditary disease defined by an increased level of low-density lipoprotein cholesterol (LDL-C), which predisposes significant risks for premature cardiovascular disorders. We present a family trio study: proband, a 13-year-old Kazakh girl with homozygous familial hypercholesterolemia (HoFH) and her parents. HoFH is much more rare and severe than a heterozygous form of the disorder. HoFH patients generally present with LDL-C levels exceeding 13 mmol/L, resulting in early and life-threatening cardiovascular events within the first decades of life. In cases of neglected treatment, young patients have a risk of death from coronary diseases before the age of 30. The aim of this research was to identify genetic mutations in the affected patient and her parents. Genetic testing was necessary due to highly elevated LDL-C levels and the presence of multiple xanthomas. Targeted next-generation sequencing (NGS) was performed in this study using the Illumina TruSight cardio panel, which targets 174 genes related to cardiac disorders. The girl was diagnosed with HoFH based on the results of genetic testing. A biallelic mutation was observed in exon 3 of the low-density lipoprotein receptor (LDLR): c. 295 G>A (p.Glu99Lys). Sanger sequencing confirmed that the mutant gene was inherited from both parents. After confirming the genetic diagnosis of HoFH, the patient was treated with LDL apheresis and statins. This case report is the first study of HoFH in a pediatric patient from the Central Asian region. Globally, it emphasizes the need for increased clinical awareness among healthcare providers, as early detection and intervention are important for improving outcomes, particularly in pediatric patients with this rare genetic disorder.
familial hypercholesterolemia , homozygous familial hypercholesterolemia , low-density lipoprotein receptor , mutation
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National Laboratory Astana, Nazarbayev University, Astana, 010000, Kazakhstan
Eurasian Society of Personalized Medicine, 010000, Astana, Kazakhstan
Faculty of Natural Sciences, L.N. Gumilyev, Eurasian National University, Astana, 010008, Kazakhstan
Corporate Fund “University Medical Center”, National Research Cardiac Surgery Center, Astana, 010000, Kazakhstan
National Laboratory Astana
Eurasian Society of Personalized Medicine
Faculty of Natural Sciences
Corporate Fund “University Medical Center”
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