Publications by authors named "P Monin"
encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.
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- PTEN hamartoma tumour syndrome (PHTS) includes syndromes like Cowden syndrome, with missense variants making up 30% of PHTS cases, yet their classification is complex.
- A study from the Bergonie Institute identified 76 non-truncating variants in 166 patients, developing a new classification method using criteria like functional analysis, phenotypic features, and familial patterns.
- The new approach successfully reclassifies 25 variants, revealing the need to update current classification standards based on multiple factors, and it requires further validation in future research.
Article Synopsis
- Long non-coding RNAs (lncRNAs) make up a significant part of the human genome, but findings show that a specific lncRNA, located near a coding gene, is linked to severe developmental disorders and epilepsy through harmful mutations.
- Researchers found three individuals with a rare deletion affecting this lncRNA, displaying similar symptoms such as developmental delays and distinct facial features, differing from typical haploinsufficiency effects.
- The study revealed that this deletion leads to altered mRNA and protein levels in patients, demonstrating that structural variants can cause neurodevelopmental disorders and emphasizing the importance of further evaluating lncRNAs in relation to genetic diseases.
Article Synopsis
- The study investigates the genetic factors in infants with isolated sagittal and metopic craniosynostosis, finding that nearly 13% carry gene variants linked to the condition.
- A total of 101 infants were examined, revealing variants in several genes including SMAD6, FGFR2, and others, with SMAD6 variants particularly associated with language delays in neurodevelopmental testing.
- The findings underscore the importance of molecular analysis for understanding the genetic underpinnings of isolated craniosynostosis and highlight the need to consider incomplete penetrance in gene interpretation.
In past decades, the identification of genes involved in epileptic disorders has grown exponentially. The pace of gene identification in epileptic disorders began to accelerate in the late 2000s, driven by new technologies such as molecular cytogenetics and next-generation sequencing (NGS). These technologies have also been applied to genetic diagnostics, with different configurations, such as gene panels, whole-exome sequencing and whole-genome sequencing.
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