Farshid Parvini - Department of Cell and Molecular Biology, Faculty of Science, Semnan University, Semnan, Iran

Familial hypertriglyceridemia (FHTG) is a rare heterogeneous autosomal recessive disorder characterized by massive accumulation of chylomicrons in plasma. Affected individuals are frequently diagnosed during infancy or childhood due to recurrent episodes of abdominal pain, pancreatitis and eruptive xanthomas. The FHTG is mostly caused by mutation of LPL gene which encodes lipoprotein lipase, the major enzyme responsible for the hydrolysis of triglyceride-rich lipoproteins in plasma. The aim of this study was to explore the molecular mechanism of severe familial hypertriglyceridemia in affected individuals derived from consanguineous marriages throughout a big family. The LPL gene of a 3-year-old female patient presenting classical features of the FHTG including 2075 mg/dl triglyceride (throughout the treatment process) was investigated. Targeted sequencing using Next Generation Illumina Sequencing was used to enrich all 10 exons of LPL gene. Subsequently, Sanger sequencing was used for confirmation of mutation found. The results revealed a novel frameshift mutation (c.759_760del:p.A253fs) in the LPL gene of patient studied. In addition, her consanguineous parents were heterozygote for this mutation. Carrier detection of other family members was performed, as well. In overall, this study uncovered one rare novel frameshift mutation in LPL gene in FHTG affected patient and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.

hypertriglyceridemia, Lipoprotein lipase, LPL gene, frameshift mutation