A5102915422- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Pediatric Hepatobiliary Diseases and Treatments
- Congenital Ear and Nasal Anomalies
- Pancreatic function and diabetes
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Biomedical Ethics and Regulation
- Hormonal Regulation and Hypertension
- Diet and metabolism studies
- RNA regulation and disease
- BRCA gene mutations in cancer
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Peptidase Inhibition and Analysis
- Nutrition, Genetics, and Disease
Amsterdam University Medical Centers
2023-2025
University of Amsterdam
2024-2025
Abstract The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with duplication have similar neurodevelopmental problems, but typically show partial ‘mirror phenotype’ underweight microcephaly. Various copy number variants (CNVs) of the chromosomal region been described. Most known about ‘typical’ BP4-BP5 (29.6–30.2 Mb; ~600 kb) deletions...
16p11.2 triplication is a rare chromosomal disorder associated with developmental delay, behavioral abnormalities, and various dysmorphic features. Here, we present case study of four-year-old girl triplication, whose healthy father has smaller duplication that partially overlaps the daughter. She global autism spectrum disorder, anxiety, sensory processing issues, alongside Genetic analysis revealed within region. We used different technical approaches to pinpoint exact genetic architecture...
Verheij syndrome [VRJS; OMIM 615583] is a rare autosomal dominant neurodevelopmental disorder characterized by distinct clinical features, including growth retardation, intellectual disability, cardiac, and renal anomalies. VRJS caused deletions of chromosome 8q24.3 or pathogenic variants in the PUF60 gene. Recently, have been reported some individuals with VRJS, contributing to variability presentation severity condition. encodes protein involved regulating gene expression cellular growth....
Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes adults with obesity. Additionally, assessed the applicability Endocrine Society (ES) recommendations for testing pediatric
Abstract Disclosure: A.V. Rodriguez Rondon: None. F. Volker: M.S. Welling: C. de Groot: M.M. van Haelst: E.L. den Akker: E.F. Rossum: P.J. Delhanty: J.A. Visser: Melanocortin 2 receptor accessory protein (MRAP2) is a membrane-bound expressed on hypothalamic neurons that modulate the function of appetite-regulating receptors, including melanocortin-4 (MC4R) and growth hormone secretagogue (GHSR). While pathogenic variants in MRAP2 gene are associated with obesity, mechanism for this remains...
Abstract Disclosure: M.S. Welling: None. M. Mohseni: R.E. Meeusen: M.R. Boon: C.J. de Groot: M.M. van Haelst: J.A. Visser: E.L. den Akker: E.F. Rossum: Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected obesity phenotype is important, as it can patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends children (<5 years) hyperphagia. It unclear whether...