PMID: 10206579

Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Arch Ophthalmol. 1999 Apr;117(4):504-10., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:6:150
status: NEW
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In phenotype I, 9 of 12 patients had a sequence change in exon 42 of the ABCR gene in which the amino acid glutamic acid was substituted for glycine (Gly1961Glu). Login to comment
10 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:10:19
status: NEW
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None exhibited the Gly1961Glu change. Login to comment
13 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:13:23
status: NEW
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One patient showed the Gly1961Glu change. Login to comment
15 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:15:90
status: NEW
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In individual patients, a certain phenotype seems to be associated with the presence of a Gly1961Glu change in exon 42 of the ABCR gene. Login to comment
31 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:31:138
status: NEW
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These patients would have been classified as having stage 1 disease as described by Fishman.14 Of interest, 9 of the 12 patients showed a Gly1961Glu sequence variation on 1 allele of the ABCR gene (Table 1), none of whom showed a dark choroid or abnormal ERG findings. Login to comment
66 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:66:195
status: NEW
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Such patients were previously categorized as having stage 3 or stage 4 disease.14 One of the 7 patients in this subgroup showed a compound heterozygous sequence variation in which 1 allele had a Gly1961Glu change. Login to comment
70 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:270
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:337
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:383
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:446
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:513
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:560
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:605
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:652
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:700
status: NEW
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ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:70:1911
status: NEW
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ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 10206579:70:720
status: NEW
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ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 10206579:70:2059
status: NEW
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ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 10206579:70:740
status: NEW
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ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 10206579:70:2079
status: NEW
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ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 10206579:70:787
status: NEW
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ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 10206579:70:1362
status: NEW
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ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 10206579:70:1762
status: NEW
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ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 10206579:70:2213
status: NEW
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ABCA4 p.Cys1488Arg
X
ABCA4 p.Cys1488Arg 10206579:70:222
status: NEW
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ABCA4 p.Arg2038Trp
X
ABCA4 p.Arg2038Trp 10206579:70:1536
status: NEW
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ABCA4 p.Arg1108Cys
X
ABCA4 p.Arg1108Cys 10206579:70:1640
status: NEW
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ABCA4 p.Cys2150Tyr
X
ABCA4 p.Cys2150Tyr 10206579:70:290
status: NEW
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ABCA4 p.Arg2077Trp
X
ABCA4 p.Arg2077Trp 10206579:70:466
status: NEW
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ABCA4 p.Trp1408Leu
X
ABCA4 p.Trp1408Leu 10206579:70:2175
status: NEW
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ABCA4 p.Thr300Asn
X
ABCA4 p.Thr300Asn 10206579:70:179
status: NEW
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ABCA4 p.Gly65Glu
X
ABCA4 p.Gly65Glu 10206579:70:403
status: NEW
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ABCA4 p.Val849Ala
X
ABCA4 p.Val849Ala 10206579:70:1266
status: NEW
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ABCA4 p.Val849Ala
X
ABCA4 p.Val849Ala 10206579:70:1343
status: NEW
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ABCA4 p.Ala60Val
X
ABCA4 p.Ala60Val 10206579:70:1045
status: NEW
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ABCA4 p.Ser206Arg
X
ABCA4 p.Ser206Arg 10206579:70:2195
status: NEW
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ABCA4 p.His2128Arg
X
ABCA4 p.His2128Arg 10206579:70:1461
status: NEW
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ABCA4 p.Tyr1652Asp
X
ABCA4 p.Tyr1652Asp 10206579:70:1742
status: NEW
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ABCA4 p.Leu1729Pro
X
ABCA4 p.Leu1729Pro 10206579:70:807
status: NEW
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ABCA4 p.Ser974Pro
X
ABCA4 p.Ser974Pro 10206579:70:1092
status: NEW
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Clinical Features of Patients With ABCR Gene Mutations* Patient No./ Sex/Age, y Clinical Phenotype Vision Silent Choroid Central Scotoma MutationOD OS 1/M/19 I 20/200 20/200 ND + Thr300Asn, exon 8 2/M/44 I 20/25 20/15 - + Cys1488Arg, exon 30 3/M/35 I 20/100 20/100 ND + Gly1961Glu, exon 42 Cys2150Tyr, exon 47 4/M/44 I 20/200 20/200 - + Gly1961Glu, exon 42 5/F/28 I 20/80 20/100 - + Gly1961Glu, exon 42 Gly65Glu, exon 3 6/M/36 I 20/25 20/200 - + Gly1961Glu, exon 42 Arg2077Trp, exon 45 7/F/44 I 20/200 20/200 - + Gly1961Glu, exon 42 8/M/41 I 20/200 20/200 - + Gly1961Glu, exon 42 9/F/32 I 20/25 20/30 - + Gly1961Glu, exon 42 10/F/36 I 20/50 20/200 - + Gly1961Glu, exon 42 11/M/31 I 20/200 20/200 - + Gly1961Glu, exon 42 Ala1038Val, exon 21 Leu541Pro, exon 12 12/M/35 I 20/200 20/200 - + Arg2107His, exon 46 Leu1729Pro, exon 36 13/M/22 II 20/200 20/200 + + 1bp del (g), codon 448, exon 10 14/F/9 II 20/200 20/40 ND + 9bp del, codon 1760/1761, exon 37 1bp ins (c), codon 1513, exon 30 15/M/19 II 10/120 10/160 + + 1bp ins (c), codon 1513, exon 30 Ala60Val, exon 3 16/M/25 II 20/200 20/200 + ND Ser974Pro, exon 20 17/F/12 II 20/200 20/200 ND + 2884 del (c), exon 19 18/F/73 II 20/30 20/25 + Paracentral scotoma 5bp del, codon 505, exon 11 19/F/35 II 10/160 10/120 ND + Val849Ala, exon 16 20/F/48 II 20/400 20/400 + +; Mild peripheral restriction Val849Ala, exon 16 Arg2107His, exon 46 21/M/54 II 20/200 20/200 + + Arg2030stop, exon 44 22/M/28 II 20/400 20/400 + + His2128Arg, exon 46 23/F/34 III 10/400 10/225 Diffuse hyperfluorescence ND Arg2038Trp, exon 44 24/F/53 III 10/700 10/600 Diffuse hyperfluorescence and notable choroidal atrophy + Arg1108Cys, exon 22 25/F/54 III 10/350 3/350 Diffuse hyperfluorescence +; Mild concentric restriction Tyr1652Asp, exon 35 Arg2107His, exon 46 26/M/57 III 20/50 20/80 ND ND Splice donor GϾA, exon 24 27/F/65 III 1/225 1/225 Diffuse choroidal atrophy Temporal islands Gly1961Glu, exon 42 frameshift del, codons 1620-1622, exon 35† 28/M/32 III 20/400 20/400 Diffuse hyperfluorescence +; Peripheral restriction Ala1038Val, exon 21 Leu541Pro, exon 12 Donor splice, exon 30 29/M/46 III 10/225 10/225 ND +; Peripheral restriction Trp1408Leu, exon 28 Ser206Arg, exon 6 Arg2107His, exon 46 *M indicates male; F, female; ND, angiography or visual field testing not done; +, present; and -, absent. Login to comment
90 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:90:22
status: NEW
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With 1 exception, the Gly1961Glu sequence variation was observed in patients with a phenotype I expression. Login to comment
99 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:99:30
status: NEW
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For example, suppose that the Gly1961Glu change is in fact a non-disease-causing polymorphism present in a relatively small portion of the general population. Login to comment
100 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:100:153
status: NEW
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If a true disease-causing mutation occurred by chance in the promoter region of such a "1961- marked" allele, then one would expect an enrichment of the Gly1961Glu sequence change among a group of patients with Stargardt dystrophy (compared with the Figure 7. Login to comment
106 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 10206579:106:134
status: NEW
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However, even if such an event were to occur, clinical associations with the marker polymorphism (such as the association between the Gly1961Glu sequence change and phenotype I in this article) would be meaningful only as long as the frequency of the polymorphism in the general population was relatively low. Login to comment