Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia

“…hypertriglyceridemia ( 46 ). We did not fi nd this mutation in 200 Spanish control individuals; neither was it found in 350 subjects randomly selected from an Italian population ( 46 ). It is thus likely that this APOA5 mutation is causally linked to the observed phenotype, especially considering that residue L253 is strictly conserved from amphibians to humans.…”

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

“…The sequence of other candidate genes involved in monogenic HTG (APOC2, APOA5, GPIHBP1 and LMF1) was performed as previously reported [11] in all patients carrying novel LPL variants and in all index patients found to be simple heterozygous for rare LPL variants. Besides rare variants, only the following common SNPs known to have an effect on plasma TG are reported in Ta …”

“…Plasma lipids were measured as previously specified [11]. In some patients LPL activity in post-heparin plasma was measured as reported [12].…”

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

“…In view of the absence of rare variants in these genes, a polygenic HTG was taken into consideration 20 in the light of: (1) the HTG in proband's father; (2) the finding that the proband and his father were carriers of rare APOC3 and GCKR alleles, known to be associated with higher plasma TG levels 12 ; and (3) the presence in the proband of one APOE ε2 allele (Table 1). HTG could also have resulted from an increased secretion or a defective catabolism of VLDL and chylomicrons, as reported to occur in obesity and insulin resistance conditions.…”