A5042591417- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Connexins and lens biology
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Advanced Glycation End Products research
- Autism Spectrum Disorder Research
- Cancer-related gene regulation
- Gut microbiota and health
- Proteins in Food Systems
- Family and Disability Support Research
- Attention Deficit Hyperactivity Disorder
- Urinary Bladder and Prostate Research
- Pediatric Hepatobiliary Diseases and Treatments
- Aldose Reductase and Taurine
- Protein Interaction Studies and Fluorescence Analysis
- Immune Response and Inflammation
- Child Nutrition and Feeding Issues
- Biochemical effects in animals
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cystic Fibrosis Research Advances
- Heat shock proteins research
- Adolescent and Pediatric Healthcare
- Congenital Ear and Nasal Anomalies
Radboud University Nijmegen
1979-2024
Radboud University Medical Center
2022-2024
Philips (Netherlands)
1979
Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define speech, cognitive phenotypic spectrum in a large cohort individuals with Method 103 syndrome (40 males, median age 9.5 years, range 1–43 years) pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, non-verbal...
Abstract Mendelian neurodevelopmental disorders caused by variants in genes encoding chromatin modification can be categorized as of the epigenetic machinery (MDEMs). These have significant overlap molecular pathways and phenotypes including intellectual disability, short stature, obesity. Among MDEMs is Kleefstra syndrome (KLFS), which haploinsufficiency EHMT1 . Preclinical studies identified metabolic dysregulation obesity KLFS models, but proper clinical translation lacks. In this study,...
Abstract Aims Kleefstra syndrome (KS), often diagnosed in early childhood, is a rare genetic disorder due to haploinsufficiency of EHMT1 and characterized by neuromuscular intellectual developmental abnormalities. Although congenital heart disease (CHD) common, the prevalence arrhythmias CHD subtypes KS unknown. Methods results Inspired novel case series patients with atrial tachyarrhythmias USA, we evaluate two largest known registries for CHD: Radboudumc (50 patients) based on health...
Pharmacological options for neurodevelopmental disorders are limited to symptom suppressing agents that do not target underlying pathophysiological mechanisms. Studies on specific genetic causing have elucidated mechanisms develop more rational treatments. Here, we present our concerted multi-level strategy 'BRAINMODEL', focusing excitation/inhibition ratio homeostasis across different levels of neuroscientific interrogation. The aim is personalized treatment strategies by linking iPSC-based...
Kleefstra Syndrome (KS) is a rare monogenetic syndrome, caused by haploinsufficiency of the euchromatic histone methyl transferase 1 (EHMT1) gene, an important regulator neurodevelopment. The clinical features KS include intellectual disability, autistic behavior and gastrointestinal problems. gut microbiota, modifier gut-brain-axis, may constitute unexplored mechanism underlying variation. We investigated microbiota composition 23 individuals with (patients) 40 their family members, to test...
The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, various musculoskeletal disorders. Scoliosis common feature. aim of this study to fill the gap in current knowledge about scoliosis individuals with KdVS provide recommendations for management follow-up. In total, 54 were included study, mean age 13.6 years (range 1.9-38.8 years)....
Abstract Kleefstra Syndrome (KS) is a rare monogenetic syndrome, caused by haploinsufficiency of the EHMT1 gene, an important regulator neurodevelopment. The clinical features KS include intellectual disability, autistic behavior and gastrointestinal problems. gut microbiota may constitute a, yet unexplored, mechanism underlying variation, as they are modifier gut-brain-axis. To test whether variation in part KS, we investigated composition 23 individuals with (patients) 40 their family...