Neurodevelopmental disorders are impairments of the growth and development of the brain or central nervous system. A result that will help in the future diagnosis of children with neurodevelopmental disorders, such as intellectual disability, autism or schizophrenia.
A key question in biology is understanding how brain works. Its basic working units, the neurons, transmit information in the form of electrical impulses and chemical signals. Alterations in the function of the neurons can lead to neurological and psychiatric disorders. Neurodevelopmental disorders (NDDs) are a group of frequent and often severe pediatric conditions, that can manifest, for example, as intellectual disability, autism or early-onset psychiatric symptoms. The recent development of higher resolution genetic diagnostic tools (like having better telescopes in astronomy) has underlined the prevalence of genetic anomalies, such as copy number variations (for example, loss of a gene), in children with NDDs.
Two HUDERF patients with neurodevelopmental disorders (here cognitive and behavioral symptoms) showed partial loss (deletion) of the DLG2 gene, which plays an important role in the development, plasticity, and stability of synapses (the zone where two neurons touch each other allowing them to exchange information).
The deletion of these new regions were found statistically associated with developmental delay and intellectual disability in two independent patient cohorts, supporting the pathogenic role of these new elements into the neurodevelopmental symptoms of both HUDERF patients. The results of this work have been published in the international journal Genome Medicine.
From a medical perspective, the findings will help medical doctors in improving future diagnosing of children with NDDs, intellectual disability, autism and schizophrenia. From a scientific point of view, this work shows how the in silico integration of multiple large datasets can bring knowledge about the genome. It also provides elegant progress into the molecular cause of neurodevelopmental disorders and improves fundamental knowledge about the DLG2 gene.