Molecular and functional characterization of familial chylomicronemia syndrome

Familial chylomicronemia syndrome is a rare autosomal recessive disorder leading to severe hypertriglyceridemia (HTG) due to mutations in lipoprotein lipase (LPL)-associated genes. Few data exist on the clinical features of the disorder or on comprehensive genetic approaches to uncover the causative...

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Bibliographic Details
Published in:Atherosclerosis 2018-02, Vol.269, p.272-278
Main Authors: Teramoto, Ryota, Tada, Hayato, Kawashiri, Masa-aki, Nohara, Atsushi, Nakahashi, Takuya, Konno, Tetsuo, Inazu, Akihiro, Mabuchi, Hiroshi, Yamagishi, Masakazu, Hayashi, Kenshi
Format: Article
Language:English
Subjects:
Adult
Child
Child, Preschool
Computed Tomography Angiography
Coronary Angiography - methods
Coronary Artery Disease - diagnostic imaging
Coronary Artery Disease - genetics
Disease Progression
DNA Mutational Analysis - methods
Familial chylomicronemia syndrome
Female
Gene Frequency
Genetic Predisposition to Disease
Heredity
High-Throughput Nucleotide Sequencing
Humans
Hyperlipoproteinemia Type I - blood
Hyperlipoproteinemia Type I - complications
Hyperlipoproteinemia Type I - diagnosis
Hyperlipoproteinemia Type I - genetics
Hypertriglyceridemia - blood
Hypertriglyceridemia - diagnosis
Hypertriglyceridemia - genetics
Infant
Lipoprotein
Lipoprotein Lipase - genetics
Lipoprotein lipase deficiency
Male
Mutation
Pancreatitis - diagnosis
Pancreatitis - genetics
Phenotype
Recurrence
Risk Factors
Time Factors
Triglyceride
Triglycerides - blood
Up-Regulation
Young Adult
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Summary:Familial chylomicronemia syndrome is a rare autosomal recessive disorder leading to severe hypertriglyceridemia (HTG) due to mutations in lipoprotein lipase (LPL)-associated genes. Few data exist on the clinical features of the disorder or on comprehensive genetic approaches to uncover the causative genes and mutations. Eight patients diagnosed with familial hyperchylomicronemia with recessive inheritance were included in this study (two males and six females; median age of onset 23.0 years; mean triglyceride level 3446 mg/dl). We evaluated their clinical features, including coronary artery disease using coronary computed tomography, and performed targeted next-generation sequencing on a panel comprising 4813 genes associated with known clinical phenotypes. After standard filtering for allele frequency
ISSN:0021-9150
1879-1484
DOI:10.1016/j.atherosclerosis.2017.11.006