IndraLab

"To our knowledge, only one study has utilized sequencing to examine rare variation in unselected SCD cases from adult populations. xref , xref The entire coding sequence and splice junctions of five ion channel genes associated with IADS, SCN5A, KCNE1, KCNE2, KCNQ1 and KCNH2 , were directly sequenced in 113 cases of SCD. xref No unique or rare coding sequence variants were identified in any of the ion channel genes in 53 men. xref In 60 women with SCD, 6 rare missense variants (10%) were identified in the cardiac sodium channel gene (SCN5A) . xref The overall frequency of these rare variants in SCN5A was significantly higher in the SCD cases compared to 733 controls from the same population (1.6%; P=0.001), and subtle alterations in ion channel function were observed for 4 of the 5 variants."