Publications by authors named "N Corsten-Janssen"
Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 - have been identified in humans with congenital malformations defined as congenital NAD deficiency disorder (CNDD). Here, we identified 13 further individuals with biallelic NADSYN1 variants predicted to be damaging, and phenotypes ranging from multiple severe malformations to the complete absence of malformation.
View Article and Find Full Text PDFBackground: Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedicated platforms may hold valuable knowledge about additional cases. The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical Center Groningen and members of a Chromosome 6 support group on Facebook.
View Article and Find Full Text PDFCouples at risk of transmitting a genetic disease to their offspring may experience doubts about their reproductive options. This study examines the effects of an online decision aid (DA) on the (joint) reproductive decision-making process of couples (not pregnant at time of inclusion) at risk of transmitting a genetic disease to their offspring. The primary outcome is decisional conflict, and secondary outcomes are knowledge, realistic expectations, deliberation, joint informed decision-making, and decisional self-efficacy.
View Article and Find Full Text PDFArticle Synopsis
- Adding rapid exome sequencing (rES) to traditional genetic tests enhances the ability to diagnose issues in pregnancies with ultrasound abnormalities but may also reveal unexpected results.
- A study involving 46 couples showed that while all accepted rES testing largely out of hope for better decision-making, most still chose to terminate the pregnancy based on significant ultrasound findings before receiving rES results.
- Anxiety levels among participants were high initially but decreased over time, suggesting that the direct influence of rES on parental decision-making and anxiety might be less significant than the initial ultrasound results.
Article Synopsis
- Subcellular membranes are rich in dolichol, important for protein glycosylation, but its exact role in organelle function and the endosomal-lysosomal pathway is still unclear.
- Variants in the DHDDS gene, which is essential for dolichol production, are linked to a form of retinitis pigmentosa and various neurodevelopmental disorders, causing symptoms like epilepsy and movement issues in affected patients.
- Clinical studies showed that patients with DHDDS mutations experienced neurological decline, cognitive issues, and changes in their lysosomal function, suggesting that these variants primarily affect the enzyme's active site and disrupt normal cell processes.