Bregje W.M. van Bon
A5000606512- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Chromosomal and Genetic Variations
- Cancer-related gene regulation
- Autism Spectrum Disorder Research
- Wnt/β-catenin signaling in development and cancer
- RNA modifications and cancer
- Down syndrome and intellectual disability research
- Chromatin Remodeling and Cancer
- Prenatal Screening and Diagnostics
- Genetic and Kidney Cyst Diseases
- Cellular transport and secretion
- Genomics and Chromatin Dynamics
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Immunodeficiency and Autoimmune Disorders
- Kruppel-like factors research
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Peptidase Inhibition and Analysis
- Ion channel regulation and function
- Genetic factors in colorectal cancer
Radboud University Nijmegen
2014-2024
Radboud University Medical Center
2014-2024
University Medical Center
2014-2022
University of Wisconsin–Madison
2022
Cornell University
2021
Weill Cornell Medicine
2021
WinnMed
2021
University Hospital and Clinics
2019
Radboud Institute for Molecular Life Sciences
2013-2017
The University of Adelaide
2015
The causes of intellectual disability remain largely unknown because extensive clinical and genetic heterogeneity.
<h3>Background:</h3> Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints associated mild to moderate mental retardation epilepsy. <h3>Methods:</h3> To assess further the clinical implications of this novel microdeletion syndrome, 18 new probands a deletion molecularly clinically characterised. In addition, we evaluated characteristics family more between BP3 BP4. Finally, four patients duplication in BP3–BP4–BP5 region included...
Severe intellectual disability (IQ <50) affects about 0.5% of the population in Western countries and carries a high health burden. In developed countries, most severe forms are thought to have genetic cause, but cause is still unknown 55% 60% patients. A diagnosis understanding may offer information on prognosis, preclude further unnecessary invasive testing, lead appropriate access medical supportive care. De novo point mutations more than 1000 different genes disability. This study was...
The present study examines the effects of late vs. early gestation undernutrition on adult glucose-insulin homeostasis in sheep and investigates whether lower birth weight twins alters handling life. Pregnant were fed to requirement (100% intake) from day 0 term [ approximately 147 days (dGA), control singles (CS) n = 5; (CT) 5] or 50% 0-30 dGA [nutrient restricted during (NRE); 110-term [NR nutrition (NRL); 4]. At all other times, NR received 100% intake. All lambed naturally; offspring...
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to accumulate large cohort alterations region 2q23.1 acquired 65 subjects microdeletion translocation. sequenced translocation breakpoints; aligned microdeletions determine critical region; assessed...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
<h3>Background</h3> <i>DYNC1H1</i> encodes the heavy chain protein of cytoplasmic dynein 1 motor complex that plays a key role in retrograde axonal transport neurons. Furthermore, it interacts with <i>LIS1</i> gene which haploinsufficiency causes severe neuronal migration disorder humans, known as classical lissencephaly or Miller-Dieker syndrome. <h3>Aim</h3> To describe clinical spectrum and molecular characteristics mutations. <h3>Methods</h3> A family based exome sequencing approach was...
<h3>Background</h3> Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency <i>PAFAH1B1</i> (encoding LIS1) causes either isolated lissencephaly sequence or Miller–Dieker syndrome, depending on the size deletion. More recently, both microdeletions microduplications mapping to syndrome telomeric critical have been identified associated with distinct but overlapping phenotypes. <h3>Methods</h3> Genome-wide microarray...
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development malignancy. YY1 acts both as repressor an activator of gene expression. We have identified 23 individuals de novo mutations or deletions phenotypic features that define syndrome cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, various congenital malformations. Our combined clinical molecular data "YY1 syndrome" haploinsufficiency...
Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation CNVs remains challenging, especially for inherited CNVs. Well-phenotyped patients (5,531) with ID/MCA were screened rare using 250K single-nucleotide polymorphism array platform in order to improve understanding contribution phenotype. We detected 1,663 1,388 (25.1%; range 0-5 per patient) which 437 occurred de novo and 638 inherited....