Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency

► ABCA1 mutations were identified in 10 patients with low plasma HDL-C levels. ► Five patients had Tangier disease and five had Familial HDL deficiency. ► Seven novel ABCA1 mutations were identified: 5 in exons and 2 in introns. ► The exonic mutations produced deleterious missense or nonsense mutations. ► The intronic mutations generated abnormally spliced mRNA encoding truncated proteins.