ABCMdb

PMID: 15614537

Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100. Epub 2004 Dec 22., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu Ophthalmoscopy revealed widespread pisciform yellow flecks Table 2 Results of the ABCA4 mutation analysis Case Patient ID ABCA4 mutations Allele 1 Allele 2 1 10034 G1961E 2 24481 768G→T 3 15168 G683A/ΔG863;R943Q 768G→T 4 19504 G683A/ΔG863;R943Q IVS40+5G→A 5 11302 768G→T 6 7608 G683A/ΔG863;R943Q 768G→T 7 15680 G1961E 8 12608 IVS38-10T→C IVS38-10T→C 9 11366 768G→T 768G→T characteristic for fundus flavimaculatus. Login to comment 79 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu Ophthalmoscopy revealed widespread pisciform yellow flecks Table 2 Results of the ABCA4 mutation analysis Case Patient ID ABCA4 mutations Allele 1 Allele 2 1 10034 G1961E 2 24481 768G࢐T 3 15168 G683A/ƊG863;R943Q 768G࢐T 4 19504 G683A/ƊG863;R943Q IVS40+5G࢐A 5 11302 768G࢐T 6 7608 G683A/ƊG863;R943Q 768G࢐T 7 15680 G1961E 8 12608 IVS38-10T࢐C IVS38-10T࢐C 9 11366 768G࢐T 768G࢐T characteristic for fundus flavimaculatus. Login to comment 121 ABCA4 p.Gly1961Glu ABCA4 p.Arg943Gln The first visual field in Table 3 Functional implications of missense and splice site mutations Mutation Type of mutation Predicted effect on ABCR function 768G→T Splice site No protein [34] G683A/ΔG863 Missense Decreased ATPase activity [54, 57] R943Q Missense Decreased ATPase activity [54] IVS38-10T→C Splice site Variant in linkage disequilibrium with unknown mutation [39] IVS40+5G→A Splice site Some residual ABCR function [39] G1961E Missense Decreased ATP binding and ATPase activity [57] Fig. 1 Fundus photographs of the patients in this study. Login to comment 122 ABCA4 p.Gly1961Glu ABCA4 p.Arg943Gln The first visual field in Table 3 Functional implications of missense and splice site mutations Mutation Type of mutation Predicted effect on ABCR function 768G࢐T Splice site No protein [34] G683A/ƊG863 Missense Decreased ATPase activity [54, 57] R943Q Missense Decreased ATPase activity [54] IVS38-10T࢐C Splice site Variant in linkage disequilibrium with unknown mutation [39] IVS40+5G࢐A Splice site Some residual ABCR function [39] G1961E Missense Decreased ATP binding and ATPase activity [57] Fig. 1 Fundus photographs of the patients in this study. Login to comment 155 ABCA4 p.Gly1961Glu Case 1 (patient 10034), displaying the combination of AMD and a heterozygous G1961E mutation, is an exception in the sense that a causal relation may be disputed. Login to comment 156 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn The assumption that certain heterozygous ABCA4 mutations are associated with AMD is primarily founded on the observation that a three- to fivefold elevated risk of AMD exists for carriers of the D2177N and G1961E variants [2-4]. Login to comment 157 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn The assumption that certain heterozygous ABCA4 mutations are associated with AMD is primarily founded on the observation that a threeto fivefold elevated risk of AMD exists for carriers of the D2177N and G1961E variants [2-4]. Login to comment 210 ABCA4 p.Gly1961Glu Patient 10034 (case 1), with AMD, carries the G1961E variant; the heterozygous presence of this ABCA4 sequence variation has previously been associated with AMD [2]. Login to comment 211 ABCA4 p.Gly1961Glu Patient 10034 (case 1), with AMD, carries the G1961E variant; the heterozygous presence of this ABCA4 sequence variation has previously been associated with AMD [2]. Login to comment