|
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 |
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 |
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
|
29925512 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirty-four ABCA4 variants previously identified in 16 STGD1 cases were reliably identified.
|
31212395 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Scotopic microperimetry (sMP) was performed in one designated study eye in a subset of participants with molecularly proven ABCA4-associated Stargardt disease (STGD1) enrolled in a multicenter natural history study (ProgStar).
|
29940588 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The discovery of a canine homozygous ABCA4 loss-of-function mutation may advance the development of dog as a large animal model for human STGD.
|
30889179 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic discordance between siblings with STGD1 carrying the same ABCA4 variants is a prevalent phenomenon.
|
31522899 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant.
|
30643219 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, 15% of patients who present with symptoms compatible with STGD1/ABCA4 disease do not have identifiable causal ABCA4 variants.
|
30926958 |
2019 |
|
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 |
BEFREE |
Although extensive genetic studies have identified more than 1000 mutations that cause STGD1 and related ABCA4-associated diseases, few studies have investigated the extent to which mutations affect the biochemical properties of ABCA4.
|
29847635 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A total of 238 patients with ABCA4-related STGD1 were enrolled at baseline (bilateral enrollment in 86.6%) and underwent repeat testing at months 6 and 12.
|
29890160 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown.
|
29526278 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene.
|
28726568 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
This chapter details how we designed dual AAV vectors for the delivery of the ABCA4 gene and describes the techniques that can be explored to evaluate dual AAV transduction efficiency in vitro and in the retina, and their efficacy in the mouse model of STGD1.
|
29188512 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4.
|
29145636 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Stem cell transplantation, ABCA4 gene therapy, VCMs, and complement inhibitors offer biologically plausible treatment mechanisms for treatment of STGD1.
|
30129371 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4.
|
29145636 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants.
|
29971439 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Limited data from prospective studies are available to understand the natural history of ABCA4-related Stargardt disease (STGD1).
|
29902293 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
|
29461686 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
|
28118664 |
2017 |