Publications by authors named "C Rieubland"
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.
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- - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
- - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
- - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
Background: Mutations in the gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a mutation can derive benefit from moderate maternal hyperglycemia, stimulating insulin secretion in fetal islets, whereas this may cause macrosomia in wild-type fetuses.
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- The DIP2 gene, first found in fruit flies, is crucial for neuron branching and regeneration, with vertebrate versions (DIP2A, DIP2B, and DIP2C) being highly conserved in the central nervous system.
- Research showed that mutations in DIP2C are linked to developmental delays in expressive language and speech articulation in 23 affected individuals.
- Alongside developmental issues, some individuals with DIP2C variants also presented with various cardiac defects and minor facial anomalies, highlighting a connection between the gene's loss-of-function and neurocognitive and physical phenotypes.
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.
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