Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Veronica BertiniRoberta MilonePaola CristofaniFrancesca CambiChiara BosettiFilippo BarbieriSilvano BertelloniGiovanni CioniAngelo ValettoRoberta BattiniPublished in: Genes (2022)
Neurodevelopmental disorders (NDDs) are considered synaptopathies, as they are due to anomalies in neuronal connectivity during development. DLG2 is a gene involved insynaptic function; the phenotypic effect of itsalterations in NDDs has been underestimated since few cases have been thoroughly described.We report on eight patients with 11q14.1 imbalances involving DLG2 , underlining its potential effects on clinical presentation and its contribution to NDD comorbidity by accurate neuropsychiatric data collection. DLG2 is a very large gene in 11q14.1, extending over 2.172 Mb, with alternative splicing that gives rise to numerous isoforms differentially expressed in brain tissues. A thorough bioinformatic analysis of the altered transcripts was conducted for each patient. The different expression profiles of the isoforms of this gene and their influence on the excitatory-inhibitory balance in crucial brain structures could contribute to the phenotypic variability related to DLG2 alterations. Further studies on patients would be helpful to enrich clinical and neurodevelopmental findings and elucidate the molecular mechanisms subtended to NDDs.
Keyphrases
- resting state
- white matter
- copy number
- genome wide
- functional connectivity
- end stage renal disease
- genome wide identification
- newly diagnosed
- ejection fraction
- high resolution
- case report
- prognostic factors
- dna methylation
- patient reported outcomes
- genome wide analysis
- electronic health record
- machine learning
- transcription factor
- brain injury
- deep learning
- blood brain barrier
- case control
- artificial intelligence