Publications by authors named "Alisee Pengam"
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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- 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.
Background: Periventricular cysts are one of the most extensively documented antenatal brain lesions found through fetal ultrasound at the University Hospital of Angers. The main purpose of our study was to determine the contribution of fetal magnetic resonance imaging (MRI) and postnatal transfontanellar ultrasound (TFU) in the assessment of isolated periventricular cysts found on antenatal ultrasound at the University Hospital of Angers.
Methods: This retrospective, descriptive study was carried out over a 10-year period.