Fig. 4.

Dolichol profiles of Family B with an arRP patient carrying compound heterozygous K42E/T206A mutations. Plasma and urinary D18/D19 ratios of this patient (A, II:1) are above the cutoff levels for K42E/K42E patients (B and C, red bars). Plasma and urinary D18/D19 ratios of seven other family members are all above the cutoff levels established for K42E carriers (B and C, blue bars). Genotyping subsequently revealed two family members as K42E carriers and five as T206A carriers (A). These data demonstrate that the T206A mutant is functionally defective in dolichol biosynthesis similar to the K42E mutant. Color-coded dots (yellow for K42E, light blue for T206A) are placed on each bar (B and C) to indicate genotypes.