Table 6 of
Rosenberg, Mol Vis 2007;
13:1962-1969.
Table 6. Identified subjects and alleles with proven or potential disease-associated ABCA4 variants related to phenotype group
The mutation detection rate varies significantly between the clinical groups (Table 1). The highest rates, 87-90% are obtained in Stargardt and flavimaculatus phenotypes, but mutations are also found in 2/3 of the examined cone-rod dystrophies and 60% of the patients with a Bull's eye maculopathy carried one or two ABCA4 mutations.
Phenotype group Number of subjects with Disease-associated According to identified mutations alleles Table 1 N (percentage) N (percentage) --------------- ----------------------- ------------------ 1 26 (89.7) 43 (74.1) 2 53 (86.9) 84 (68.9) 3a 8 (72.8) 12 (54.5) 3b 22 (68.8) 32 (51.6) 4 6 (66.7) 9 (56.3) 5a 6 (60.0) 9 (45.0) 5b 3 (27.3) 4 (18.2) Sum 124 (77.0%) 197 (61.2) |