A5084518180- Retinal Development and Disorders
- Genomics and Rare Diseases
- Retinal Imaging and Analysis
- Retinal Diseases and Treatments
- Congenital heart defects research
- Hemoglobinopathies and Related Disorders
- Folate and B Vitamins Research
- Photoreceptor and optogenetics research
- Ophthalmology and Visual Impairment Studies
- Neuroscience and Neural Engineering
- Connexins and lens biology
- CRISPR and Genetic Engineering
- Renal and related cancers
- Cell Adhesion Molecules Research
- Tissue Engineering and Regenerative Medicine
- RNA Interference and Gene Delivery
- Chromosomal and Genetic Variations
- Cerebral Venous Sinus Thrombosis
- Advanced biosensing and bioanalysis techniques
- Genetics, Bioinformatics, and Biomedical Research
- ATP Synthase and ATPases Research
- Advanced Electron Microscopy Techniques and Applications
- RNA regulation and disease
- Intraocular Surgery and Lenses
- Glaucoma and retinal disorders
Ghent University
2019
Ghent University Hospital
2016-2019
PurposeUsing exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored Stargardt disease (STGD1) as a model to identify missing heritability.MethodsSequencing of ABCA4 was performed 8 STGD1 cases one variant and p.Asn1868Ile trans, 25 variant, 3 no variant. The effect intronic analyzed using vitro splice assays HEK293T cells patient-derived fibroblasts. Antisense oligonucleotides were used correct defects.ResultsIn 24 probands...
<h2>Abstract</h2><h3>Purpose</h3> <i>ABCA4</i>-associated disease, a recessive retinal dystrophy, is hallmarked by large proportion of patients with only one pathogenic <i>ABCA4</i> variant, suggestive for missing heritability. <h3>Methods</h3> By locus-specific analysis <i>ABCA4</i>, combined extensive functional studies, we aimed to unravel the alleles in cohort 67 (<i>p</i>), (<i>p</i> = 64) or no 3) identified coding variants <i>ABCA4</i>. <h3>Results</h3> We eight (deep-)intronic splice...
PurposePart of the hidden genetic variation in heterogeneous conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored genomic landscape IRD genes listed RetNet to identify and prioritize those susceptible CNV formation.MethodsRetNet underwent an assessment features occurrence Database Genomic Variants literature. CNVs identified cohort were characterized using targeted locus amplification (TLA) on extracted...
The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G>A, p.(Gly56Arg) or G56R, underlies 1%–2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heterogeneous inherited retinal disease (IRD). mutant NR2E3 protein has presumed negative effect (DNE) by competition for dimer formation Cone-Rod Homeobox (CRX) but abolishment DNA binding, acting as repressor trans. Both the frequency and DNE G56R make it an...
Sorsby fundus dystrophy (SFD) is a macular degeneration caused by mutations in TIMP3, the majority of which introduce novel cysteine. However, exact molecular mechanisms underlying SFD remain unknown. We aimed to provide insights into functional consequences distinct N-terminal mutation. Haplotype reconstruction three families revealed that identified c.113C>G, p.(Ser38Cys) mutation founder Belgian and northern French with late-onset phenotype. Functional were investigated high-resolution...