Publications by authors named "G J Van Buggenhout"
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
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- 46,XY gonadal dysgenesis (GD) is a disorder that leads to underdeveloped testes and results in ambiguous genitalia, often linked to genetic factors like duplications at the Xp21.2 locus affecting the NR0B1 (DAX1) gene.
- Recent findings indicate a complex genetic variant may also lead to GD without directly involving NR0B1, highlighting the complexity of this condition.
- The study presents three families with NR0B1 duplications found during prenatal screenings, including cases of phenotypically normal males, suggesting that the implications of these genetic variations are broader than previously understood and could help in prenatal genetic counseling.
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS. More hyporeactivity symptoms and less hyperreactivity and sensory seeking behaviour are seen, particularly in the auditory domain.
View Article and Find Full Text PDFNeurodevelopmental profile and stages of regression in Phelan-McDermid syndrome.
Dev Med Child Neurol
July 2023
Aim: To characterize the neurodevelopmental profile of patients with Phelan-McDermid syndrome (PMS) and describe the nature and trajectory of regression.
Method: This was a retrospective, monocentric study examining the clinical and developmental data of 24 patients (average age = 25 years 6 months, range = 6-56 years, n = 13 males) with a confirmed 22q13.3 terminal deletion carried out at the Centre for Human Genetics, University Hospital Leuven.
Article Synopsis
- Non-invasive prenatal testing can identify common trisomies (13, 18, 21) and also rare autosomal trisomies (RATs), which occur at about half the frequency of the common ones in large populations.
- There is a lack of extensive studies and clear clinical guidelines to help healthcare professionals and patients manage cases involving RATs effectively.
- This review consolidates knowledge on RATs, discussing their incidence, origins, related risks, and emphasizes the need for further research in this area for better prenatal management.