Publications by authors named "L van Maldergem"
Article Synopsis
- Mutations in the PQBP1 gene are linked to Renpenning syndrome, a neurodevelopmental disorder that causes intellectual disability, primarily affecting males due to its X-linked inheritance.
- Researchers knocked down PQBP1 in human neural stem cells, finding reduced cell growth and changes in 58 gene expressions related to neurodegeneration and immunity.
- The study identified a specific isoform of the UPF3B gene associated with PQBP1 mutations, suggesting unique functions for different isoforms, and utilized this finding to assess the impact of various PQBP1 gene variants in patients with neurodevelopmental disorders.
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.
Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network.
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.
View Article and Find Full Text PDF