ABCMdb

PMID: 18326749

Maia-Lopes S, Silva ED, Silva MF, Reis A, Faria P, Castelo-Branco M
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives.
Invest Ophthalmol Vis Sci. 2008 Mar;49(3):1191-9., [PubMed]

Sentences

No. Mutations Sentence Comment

133 ABCA4 p.Gly1961Glu ABCA4 p.Leu11Pro The most frequent mutation found was the missense variant G1961E (6.7%) that, even in the heterozygous state, has been significantly associated with age-related macular degeneration (AMD).16 One missense mutation involving an uncharged amino acid (L11P) in a conserved domain that has been found in FFM patients was detected. Login to comment 134 ABCA4 p.Val2050Leu ABCA4 p.Asn96Asp ABCA4 p.Leu2027Phe ABCA4 p.Arg2030Gln ABCA4 p.Arg290Trp Several other sequence changes that have been significantly correlated to the STGD phenotype (M1V, N96D, R290W, L2027F, R2030Q, V2050L, 3211insGT, and IVS40af9;5Gb0e;A) were also identified. Login to comment 149 ABCA4 p.Gly1961Glu ABCA4 p.Leu11Pro The most frequent mutation found was the missense variant G1961E (6.7%) that, even in the heterozygous state, has been significantly associated with age-related macular degeneration (AMD).16 One missense mutation involving an uncharged amino acid (L11P) in a conserved domain that has been found in FFM patients was detected. Login to comment 150 ABCA4 p.Val2050Leu ABCA4 p.Asn96Asp ABCA4 p.Leu2027Phe ABCA4 p.Arg2030Gln ABCA4 p.Arg290Trp Several other sequence changes that have been significantly correlated to the STGD phenotype (M1V, N96D, R290W, L2027F, R2030Q, V2050L, 3211insGT, and IVS40ϩ5GϾA) were also identified. Login to comment 169 ABCA4 p.Gly1961Glu Given the similarity between STGD and AMD and that some high-prevalence mutations-namely, the variant G1961E-even in the heterozygous state, have been significantly associated with AMD, STGD carriers may well have some predisposition to the development of AMD, although this statement must at this point remain speculative. Login to comment 191 ABCA4 p.Gly1961Glu Given the similarity between STGD and AMD and that some high-prevalence mutations-namely, the variant G1961E-even in the heterozygous state, have been significantly associated with AMD, STGD carriers may well have some predisposition to the development of AMD, although this statement must at this point remain speculative. Login to comment