Publications by authors named "Lone W Laulund"
Article Synopsis
- The translation elongation factor eEF1A2 is crucial for binding aminoacyl-tRNA to the ribosome, and since 2012, 21 harmful variants have been linked to severe neurodevelopmental disorders, including epilepsy and intellectual disabilities.
- A recent study gathered 26 patients with EEF1A2 variants, revealing a milder clinical profile than previously reported, with higher walking and language skills and lower rates of intellectual disability and epilepsy.
- The research identified 8 new EEF1A2 variants and suggests that severe and moderate phenotypes are linked to specific protein regions affecting GTP exchange, while milder variants may affect secondary functions, contributing to a broader understanding
Article Synopsis
- SRSF1 is a protein that plays a crucial role in mRNA processing and is essential for proper brain development; its complete loss is fatal during embryonic stages in mice.
- Researchers identified 17 individuals with neurodevelopmental disorders (NDD) who have specific genetic changes in the SRSF1 gene, which lead to developmental delays, intellectual disability, and other health issues.
- Advanced analysis techniques demonstrated that most genetic variants linked to SRSF1 result in a loss of its function, causing syndromic NDD due to impaired splicing activity.
Disease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with congenital muscle weakness progressing to a myasthenia like myopathy with muscle weakness, fatigability, ptosis, and ophthalmoplegia. Muscle biopsy showed predominance and atrophy of type 1 fibers.
View Article and Find Full Text PDFPurpose: Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behavioral disturbances, and electroencephalogram abnormalities. In this study, we expand the genotypes and phenotypes and identify discriminating features of this disorder.
View Article and Find Full Text PDFAlthough somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported.
View Article and Find Full Text PDFPurpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).
Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function.
Article Synopsis
- The article had a spelling error in the author's name, Pleuntje J. van der Sluijs.
- It was incorrectly listed as Eline (P. J.) van der Sluijs.
- The error has been fixed in both the PDF and HTML formats of the article.
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS.
View Article and Find Full Text PDFArticle Synopsis
- Rare copy number variants (CNVs) affecting ASTN2 and TRIM32 were found in individuals with neurodevelopmental disorders (NDDs), highlighting their possible link to conditions like autism and ADHD.
- A large study screened nearly 90,000 individuals, uncovering 46 deletions and 12 duplications of ASTN2, particularly enriched in NDD subjects compared to controls.
- The research shows that certain ASTN2 deletions are more common in males and suggests astrotactins play a significant role in brain development and associated psychopathology.
Aim: This paper is a report of a study of the effects of communication-skills training for healthcare professionals on parents' perceptions of information, care and continuity.
Background: As training in communication skills has been more and more integrated into clinical practice it has been subject to an increasing number of studies. However, the majority of studies have been conducted in outpatient clinics, have only targeted physicians, and have not been evaluated from the perspective of patients.