ABCMdb

PMID: 12592048

Baum L, Chan WM, Li WY, Lam DS, Wang PB, Pang CP
ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
Ophthalmologica. 2003 Mar-Apr;217(2):111-4., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA4 p.Arg212His ABCA4 p.Val1433Ile ABCA4 p.Thr1572Met ABCA4 p.Thr1428Met ABCA4 p.Ile2166Met Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T1G and IVS33+1G1T were found in AMD patients. Login to comment 4 ABCA4 p.Thr1428Met ABCA4 p.Arg2040* T1428M and R2040X occurred in STGD patients. Login to comment 16 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn However, one very large study revealed a significant association of D2177N and G1961E with AMD [20]. Login to comment 18 ABCA4 p.Arg212His ABCA4 p.Val1433Ile ABCA4 p.Thr1572Met ABCA4 p.Thr1428Met ABCA4 p.Ile2166Met ABCA4 protein or splice sequence alterations in AMD and normal controls Sequence change AMD (140) Normal (95) Reports R212H 1 (1%) 1 (1%) polymorphism [18, 24] IVS6-5T1G 1 (1%) 0 (0%) novel T1428M 18 (13%) 15 (16%) rare in AMD [15] or common polymorphism [17] V1433I 1 (1%) 1 (1%) 1/150 STGD families and 0/220 normal controls [14]; 1/182 AMD, 0/96 normal controls and 0/374 STGD [38]; not segregated with AMD in families [13] T1572M 1 (1%) 1 (1%) novel IVS33+1G1T 1 (1%) 0 (0%) novel I2166M 2 (1%) 1 (1%) novel Table 2. Login to comment 19 ABCA4 p.Thr1428Met ABCA4 p.Arg2040* ABCA4 protein sequence alterations in STGD and normal controls STGD (18) Normal (95) Reports T1428M 2 (11%) 15 (16%) rare in AMD [15] or common polymorphism [17] R2040X 2 (11%) 0 (0%) novel, but nearby truncations in STGD [14] to explore the possible link between ABCA4 alterations and AMD in a previously unexamined ethnic group, we selected 15 exons which had been reported to contain a high proportion of the known ABCA4 sequence changes in STGD and AMD [13, 15, 17, 19, 21], and we examined these exon coding regions and their splice sites for sequence changes in 140 AMD, 18 STGD and 95 elderly normal control subjects who were all unrelated Hong Kong residents, as well as in family members of some patients. Login to comment 35 ABCA4 p.Arg2040* In STGD, R2040X was detected in 2 patients but not in controls (table 2). Login to comment 38 ABCA4 p.Arg212His R212H was found in both an AMD patient and a control subject. Login to comment 40 ABCA4 p.Thr1428Met T1428M appears to be a polymorphism. Login to comment 42 ABCA4 p.Val1433Ile V1433I, detected in both an AMD patient and a control subject, has been reported to not segregate with disease in AMD families and may be a polymorphism [13]. Login to comment 43 ABCA4 p.Thr1572Met ABCA4 p.Ile2166Met T1572M and I2166M have not previously been reported. Login to comment 45 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn D2177N and G1961E have been associated with AMD, but we found these mutations in neither AMD, STGD nor control subjects [20]. Login to comment