STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.
|
11594993 |
2001 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We disclose two novel ABCA4 mutations in Chinese patients with STGD disease, which will expand the existing spectrum of disease-causing variants and will further aid in the future mutation screening and genetic counseling, as well as in the understanding of phenotypic and genotypic correlations.
|
27739528 |
2016 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Entire coding region analysis of the ABCA4 gene by direct sequencing of seven patients with clinical findings of STGD seen in the Retina Clinics of Southampton Eye Unit between 2002 and 2011.Phenotypic variables recorded were BCVA, fluorescein angiographic appearance, electrophysiology, and visual fields.
|
23949494 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
|
23940504 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
|
23776498 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation.
|
31611143 |
2020 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA4 are the most common cause of STGD in this cohort.
|
26161775 |
2015 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable.
|
29461686 |
2018 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing.
|
10634594 |
2000 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
|
10090887 |
1999 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD.
|
10711710 |
2000 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD.
|
31674661 |
2020 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two mild intronic ABCA4 variants could further explain missing heritability in late-onset STGD1, distinguishing it from AMD.
|
31618761 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
|
26092729 |
2015 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The ATP-binding cassette (ABC) transporter gene, ABCA4 (ABCR), was characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (STGD1).
|
25573774 |
2015 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP).
|
15494742 |
2004 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1) segregates with mutations in the ABCA4 (ABCR) locus.
|
12754711 |
2003 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eighteen patients with clinical and molecular diagnosis of STGD related to ABCA4 mutations and 23 normally sighted volunteers of comparable age and sex were enrolled.
|
26574798 |
2015 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
|
23953153 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1.
|
24677105 |
2014 |