Barbara W. van Paassen
A5063264455- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Peripheral Neuropathies and Disorders
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
Erasmus MC
2019-2021
Amsterdam UMC Location University of Amsterdam
2011-2017
University of Amsterdam
2011-2017
Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and BAP1-inactivated nevi. Because this risk, it important to identify patients BAP1-TPDS. The tumors are treated by different...
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features described for 11 patients (likely) pathogenic sequence variants. This study aims to further delineate the spectrum of SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform in-depth characterization cohort 36 unpublished individuals variants, describing their...
Severe fatigue and low quality of life are reported by a majority adult patients with hereditary motor sensory neuropathy 1A. In children 1A, the prevalence impact have not been studied yet. this questionnaire survey, 55 Dutch (response rate 77%) genetically confirmed 1A participated (mean age 15 years [standard deviation 2.1]). Prevalence severe (based on cut-off score Checklist Individual Strength) was 24%, in contrast to 14% school-based population (P < .05). Almost all quality-of-life...
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. proband needed walking aids since adolescence because of generalized muscle weakness. sister the same symptoms although to lesser extent. father aunt had foot deformity atrophy lower legs. A homozygous GDAP1 mutation found sister. Further testing compound heterozygous...
Point mutations in PMP22 are relatively rare and the phenotype may vary from mild hereditary neuropathy with liability to pressure palsies (HNPP) severe Charcot-Marie-Tooth type 1 (CMT1). We describe of Gly94fsX222 mutation gene. Medical records all patients were reviewed 11 re-examined. EMG was carried out nine nerve biopsy one. Thirteen originating seven families a included consisted 10 women 3 men median age 41 years (range 7-67). Five index originally suspected CMT1. Ten had abnormal...
ABSTRACT Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay and seizures. To date, clinical features described for eleven patients (likely) pathogenic sequence variants. We perform an in-depth characterization of cohort 36 unpublished individuals variants, describing their molecular phenotypic spectrum. Selected were functionally tested using vitro genome-wide methylation assays. Our data present...