Publications by authors named "Josephine Schijns"
Article Synopsis
- CREB-binding protein (CBP) and E1A-associated protein (p300) are crucial for histone acetylation and gene regulation; mutations in these proteins lead to conditions like Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK).
- A study on 82 individuals with CBP/p300 variants revealed distinct phenotypes and identified three subtypes of MKHK based on specific protein domains (ZZ, TAZ2, and ID4), rather than the genes themselves.
- DNA methylation profiles showed characteristic patterns associated with the different protein domains, allowing for better classification and understanding of the molecular mechanisms behind these syndromes.
Article Synopsis
- The study focuses on "episignatures," which are unique DNA methylation patterns used as biomarkers for diagnosing various genetic syndromes, particularly neurodevelopmental disorders.
- Researchers analyzed DNA methylation changes in 65 genetic syndromes, identifying specific differentially methylated probes (DMPs) and regions (DMRs) associated with these conditions.
- Findings indicated that DMPs and DMRs were mostly located in gene promoters and pathways related to neurodevelopment, highlighting a connection between gene mutations and altered DNA methylation profiles in these disorders.
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes.
View Article and Find Full Text PDFA conservative approach in a child with haematuria after accidental rectal impalement trauma.
Afr J Paediatr Surg
December 2016
We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management with close observation can be considered in patients with rectal impalement trauma presenting with haematuria and stable vital parameters without significant injury on abdominal ultrasound.
View Article and Find Full Text PDFBackground: A cohort of children born with perinatal hypoxic-ischemic encephalopathy (HIE) was followed prospectively until school age.
Aims: To describe motor outcome and behavioral functioning of school-age children after perinatal HIE and the relationship with neonatal MRI and outcome at age 2.
Methods: Twenty-five children (19 males), born at term with perinatal HIE, were assessed at a mean age of 7 y 6 m (range 6 y 4 m-8 y 2 m).