Publications by authors named "B Le Bon"
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.
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- AJAP1 is a protein linked to brain diseases and is found in neurons, specifically in dendrites, where it plays a role in recruiting GABA type B receptors (GBRs) to presynaptic sites.
- Several genetic variants of AJAP1, including the p.(W183C), have been associated with epilepsy and neurodevelopmental disorders, particularly affecting its ability to bind GBRs.
- Mice lacking functional AJAP1 showed decreased levels of presynaptic GBRs, leading to impaired synaptic inhibition and plasticity, highlighting the importance of AJAP1 in regulating neurotransmitter release.
Article Synopsis
- The study highlights the lack of understanding regarding comorbidities in individuals with neurodevelopmental disorders (NDDs), which are crucial for accurate diagnosis and prognosis.
- PhenomAD-NDD is a newly developed database that compiles comorbid phenotypic data from over 51,000 individuals with NDD, utilizing a standardized classification known as Human Phenotype Ontology (HPO).
- The findings reveal that congenital anomalies are significantly more common in the NDD population compared to the general population, and highlight that many important phenotypes related to genetic NDDs are not currently documented in existing clinical resources like OMIM.