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rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
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rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
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rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade.
|
19578016 |
2009 |
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rs76157638
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
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rs76157638
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation.
|
15019334 |
2004 |
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rs61751374
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
|
rs760549861
|
|
|
0.710 |
GeneticVariation |
BEFREE |
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
|
23419329 |
2013 |
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rs1801466
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).
|
31618761 |
2019 |
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rs1801466
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
|
29971439 |
2018 |
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rs1801466
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study demonstrates the consistency of foveal sparing, the variation in age at onset, the intrafamilial variability, and the prognosis with regard to visual acuity in p.N1868I-associated Stargardt disease.
|
30204727 |
2019 |
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rs61750200
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Argl107Cys, Gly1977Ser, Arg2107His, and le2113Met).
|
10458172 |
1999 |
|
rs61750200
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
|
9503029 |
1998 |
|
rs1061170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
|
30285522 |
2018 |
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rs121434491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice.
|
20206286 |
2010 |
|
rs121909205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
|
9503029 |
1998 |
|
rs137853300
|
|
|
0.010 |
GeneticVariation |
BEFREE |
First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice.
|
20206286 |
2010 |
|
rs201471607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.
|
29145636 |
2018 |
|
rs3112831
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, even though the c.1268A>G missense variant of the ABCA4 gene has often been reported as causative of disease, and in other cases protective of disease, in our family case, the variant appears to reduce or delay the risk of onset of Stargardt disease.
|
28290600 |
2017 |
|
rs61750120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Molecular genetic examination of the ABCR gene showed two heterozygous missense mutations: R1108C (CGC-->TGC) in exon 22 and a splicing mutation IVS6--> 1GT - described in the literature in association with Stargardt disease.
|
16703556 |
2006 |
|
rs62645944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation.
|
15019334 |
2004 |
|
rs756840095
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first, a mild form, consisting on fundus flavimaculatus-like distribution of flecks, but good visual acuity and absence of dark choroid, was found to cosegregate with alleles R1097C and F553L; the second, a conventional Stargardt phenotype was associated to alleles L1940P/R1097C and the third, displaying severely reduced visual acuity and dark choroid (named FFM), was associated to L1940P/F553L.
|
12442277 |
2002 |
|
rs775179967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.
|
29145636 |
2018 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |