Publications by authors named "J Mortreux"
Background: Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD).
Case Presentation: Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of neonatal recurrent HLHS caused by heterozygous compound variants in the MYH6 gene inherited from the (healthy) parents. MYH6 is known to be highly polymorphic; a large number of rare and common variants have variable effects on protein levels.
The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved in ultra-rare human diseases, called TRAPPopathies. Seven of them are autosomal recessive neurodevelopmental disorders with overlapping phenotypes.
View Article and Find Full Text PDFArticle Synopsis
- ARGONAUTE-2 (AGO2) and its associated miRNAs form the RNA-induced silencing complex (RISC), which is vital for controlling mRNA translation and degradation in the RNA interference pathway.
- Researchers discovered 13 mutations in the AGO2 gene among 21 patients with neurological development issues, leading to a breakdown in shRNA-mediated silencing.
- The mutations caused problems in RISC formation and affected AGO2's interaction with mRNA, highlighting the significance of proper gene expression regulation for human brain development.