A5018470943- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Connexins and lens biology
- Adipose Tissue and Metabolism
- Retinal and Macular Surgery
- Epigenetics and DNA Methylation
- Cholesterol and Lipid Metabolism
- Congenital heart defects research
- Genetic Associations and Epidemiology
- RNA and protein synthesis mechanisms
- Ubiquitin and proteasome pathways
- Retinal Imaging and Analysis
- Protist diversity and phylogeny
- Developmental Biology and Gene Regulation
- Endoplasmic Reticulum Stress and Disease
- Genetic Syndromes and Imprinting
- Retinoids in leukemia and cellular processes
- Renal Diseases and Glomerulopathies
- Genetics and Neurodevelopmental Disorders
- Advanced Nanomaterials in Catalysis
- Advanced biosensing and bioanalysis techniques
- Mitochondrial Function and Pathology
- Genetic and Kidney Cyst Diseases
Ghent University Hospital
2016-2021
Ghent University
2021
University of Lausanne
2014
Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping whole-exome sequencing (WES) consanguineous family revealed homozygous missense mutation, c.973C>T (p.His325Tyr), RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, mild intellectual disability. Subsequent analysis WES data different cohorts...
Inactivating variants as well a missense variant in the centrosomal CEP78 gene have been identified autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), rare syndromic inherited retinal disease distinct from Usher syndrome. Apart this, complex structural (SV) implicating has reported CRDHL. Here we aimed to expand genetic architecture of typical CRDHL by identification SVs region and characterization their underlying mechanisms. Approaches used for are shallow whole-genome...
Inactivating variants in the centrosomal CEP78 gene have been found cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized first missense variant c.449T>C, p.(Leu150Ser) three CRDHL families. The was biallelic state two Belgian families compound heterozygous state-in trans c.1462-1G>T-in third German family. Haplotype reconstruction showed founder effect. Homology modeling revealed detrimental...