Publications by authors named "A Chassevent"
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.
View Article and Find Full Text PDFArticle Synopsis
- * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
- * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
Article Synopsis
- Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
- EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
- The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
The different clinical facets of -related neurodevelopmental disorders.
Front Cell Dev Biol
December 2022
Article Synopsis
- This study introduces 31 new individuals with 22 unique genetic variants related to SYN1 disorders, detailing the prevalence of symptoms like autism, epilepsy, and intellectual disability across these cases.
- The research also identifies specific triggers for seizures, such as water contact and routine activities, and suggests that the type of genetic mutation can influence the severity of symptoms, particularly the relationship between early seizure onset and greater intellectual challenges.
Article Synopsis
- The blood-brain barrier is essential for protecting the central nervous system (CNS) and maintaining its balance, with Claudin-5 (CLDN5) being a key factor in its integrity.
- Researchers discovered new mutations in the CLDN5 gene in 15 unrelated patients, who exhibited symptoms like developmental delays, seizures, and specific brain abnormalities.
- By studying these variants in zebrafish, they found that these mutations likely disrupt the normal function of CLDN5, leading to a new neurodevelopmental disorder that affects both the blood-brain barrier and neuronal health.