Research Topic

Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders

About this Research Topic

The expanded use of high-throughput sequencing platforms as targeted panels, whole exome sequencing (WES) and whole genome sequencing (WGS) are contributing to unraveling the genetic complexity and heterogeneity underlining neurodevelopment disorders with unprecedented speed. Before associating a deeply ...

The expanded use of high-throughput sequencing platforms as targeted panels, whole exome sequencing (WES) and whole genome sequencing (WGS) are contributing to unraveling the genetic complexity and heterogeneity underlining neurodevelopment disorders with unprecedented speed. Before associating a deeply phenotyped patient to a specific nosological entity, and hence to the causative gene, clinicians must first check a list of clinical criteria. However, many cases are not so clearly classifiable, due to overlapping symptoms and clinical presentation between different conditions. This mirrors the increased detection of variants in ‘unexpected’ genes in conditions characterized by neurodevelopmental issues. This pattern is progressively leading to defining nosological groups of conditions rather than individual disorders.

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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Submission Deadlines

14 June 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

14 June 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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