Figure 2

Biochemical confirmation of desmosterolosis. Comparative sterol profiles for the patients (second and third bar sets), heterozygous parents (fourth and fifth bar sets), and unaffected control (first bar set). Sterols were measured in lysates from lymphoblasts cultured in delipidated medium for 3 days and showed a 17–25 fold increased ratio of desmosterol to total sterols in comparison to controls, whereas as heterozygous parents present a 1.7 and 1.5 increase, respectively. Each bar represents the average of 3 technical replicates. 7-DHC is represented as an internal control.