About this Research Topic
Despite extensive omics approaches now being available, recent data shows that a specific diagnosis can currently be achieved in less than 50% of patients affected with a neurodevelopmental disorder. Often, a more accurate (re)phenotyping can help in pointing to a group of syndromes. It can also lead to a molecular reanalysis of the case, integrating targeted approaches on the top candidate genes (such as MLPA) to uncover deletions/duplications of whole exons or revisiting their intronic regions.
This Research Topic aims to contribute to the definition and clustering of the phenotypes associated with pathogenic variants in defined groups of genes, which might inform both the clinical and molecular workup of patients with neurodevelopmental disorders. We aim to better define the genetic and phenotypic heterogeneity of specific neurodevelopmental disorders, and therefore welcome submissions on the following:
• Original articles on targeted high-throughput sequencing panels, WES, WGS, and microarray analyses which allow the identification of unexpected involvement of a gene in specific disorders. Detection of pathogenic variants in non-coding regions are welcome, but transcript analysis or functional studies must be provided;
• Reviews on the pleiotropy of individual genes or, vice versa, marked heterogeneity of a specific neurodevelopmental disorder;
• Case reports can also be accepted, with the exception of single sporadic cases.
Keywords: Neurodevelopmental disorders, Differential diagnoses, Omic approaches, Nosology, Expression studies
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