ABCMdb

PMID: 10458172

Souied EH, Ducroq D, Gerber S, Ghazi I, Rozet JM, Perrault I, Munnich A, Dufier JL, Coscas G, Soubrane G, Kaplan J
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
Am J Ophthalmol. 1999 Aug;128(2):173-8., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA4 p.Arg212Cys ABCA4 p.Arg2107His ABCA4 p.Gly1977Ser ● RESULTS: Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Arg1107Cys, Gly1977Ser, Arg2107His, and le2113Met). Login to comment 4 ABCA4 p.Arg212Cys Heterozygous missense mutations were observed in the grandparents with age-related macular degeneration (Arg212Cys and Arg1107Cys). Login to comment 6 ABCA4 p.Arg212Cys The hypothesis that the Arg212Cys and Arg1107Cys ABCR gene mutations could be susceptibility factors for age-related macular degeneration is discussed. Login to comment 46 ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg2107His ABCA4 p.Gly1977Ser ABCA4 p.Ile2113Met Compound heterozygous missense mutations were observed in patients with Stargardt disease: Arg212Cys and Ile2113Met (III.1 and III.2, family 1), Arg1107Cys and Arg2107His (III.1 and III.2, family 2), Arg212Cys and Gly1977Ser (III.1 family 3) (Figure 1). Login to comment 47 ABCA4 p.Arg212Cys Heterozygous missense mutations were observed in the three grandparents affected with age-related macular degeneration: Arg212Cys (I.2 family 1; I.1 family 3) and Arg1107Cys (I.2 family 2) (Figure 3). Login to comment 49 ABCA4 p.Arg212Cys Among them, II.2 family 1 and II.2 family 2, carrying the Arg212Cys and Arg1107Cys mutations, displayed hard drusen on retinal examination. Login to comment 56 ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Arg2107His ABCA4 p.Arg2107His ABCA4 p.Arg2107His ABCA4 p.Arg2107His ABCA4 p.Gly1977Ser ABCA4 p.Gly1977Ser ABCA4 p.Ile2113Met ABCA4 p.Ile2113Met ABCA4 p.Ile2113Met Clinical Data of Individuals From the Three Pedigrees Individual, Family Age (yrs) Visual Acuity Macular Involvement (fundus examination and FA) Genotype*RE LE I.2, fam 1 78 CF CF RPE atrophy, some hard drusen and choroidal new vessel (Figure 2, top left) Arg212Cys/wt I.2, fam 2 86 CF CF Progressive geographic atrophy since the age of 80 (Figure 2, top right) Arg1107Cys/wt I.1, fam 2 75 20/30 20/40 Patches of RPE atrophy and perimacular soft drusen (Figure 2, middle left) Arg212Cys/wt I.2, fam 3 72 20/20 20/20 None wt/wt II.1, fam 1 44 20/20 20/20 None Ile2113Met/wt II.2, fam 1 50 20/20 20/25 Diffuse hard drusen (Figure 2, middle right) Arg212Cys/wt II.1, fam 2 70 20/20 20/20 None Arg2107His/wt II.2, fam 2 66 20/20 20/25 Diffuse hard drusen (Figure 2, bottom) Arg1107Cys/wt II.1, fam 3 37 20/20 20/20 None Gly1977Ser/wt II.2, fam 3 39 20/20 20/20 None Arg212Cys/wt III.1, fam 1 10 20/200 20/200 RPE atrophy, fundus flavimaculatus and choroidal silent Arg212Cys/Ile2113Met III.2, fam 1 6 20/20 20/20 None Ile2113Met/wt III.1, fam 2 33 20/200 CF RPE atrophy, fundus flavimaculatus and choroidal silent Arg1107Cys/Arg2107His III.2, fam 2 28 CF CF RPE atrophy, fundus flavimaculatus and choroidal silent Arg1107Cys/Arg2107His III.3, fam 2 24 20/20 20/20 None Arg2107His/wt III.1, fam 3 12 CF 20/200 RPE atrophy, fundus flavimaculatus and choroidal silent Arg212Cys/Gly1977Ser III.2, fam 3 9 20/20 20/20 None wt/wt CF ϭ counting fingers; FA ϭ fluorescein angiography; None ϭ no macular degeneration; RPE ϭ retinal pigment epithelium; wt ϭ wild type. Login to comment 76 ABCA4 p.Arg212Cys First, the Arg212Cys codon change occurs in the extracellular domain loop of the protein (predicted N-glycosylation site), and the Arg1107Cys occurred in a codon adjacent to the first transporter signature-motif. Login to comment 90 ABCA4 p.Arg212Cys Identification of the Arg212Cys ABCR gene mutation. Login to comment