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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Genetic causes underlying grey matter heterotopia.

Ilona Vriend¹, Renske Oegema¹

¹Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

|October 19, 2021

Summary

This summary is machine-generated.

Grey matter heterotopia (GMH), a neuronal migration disorder, presents extreme genetic heterogeneity. This comprehensive overview aids clinicians in diagnosing GMH subtypes like periventricular nodular heterotopia, facilitating personalized patient management.

Keywords:

Brain malformations FLNA Genetics Malformations of cortical development Periventricular nodular heterotopia Subcortical band heterotopia

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Published on: May 8, 2020

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Grey matter heterotopia (GMH) are developmental brain malformations resulting from neuronal migration failures during fetal development.
These malformations can lead to seizures and are associated with various neurodevelopmental disorders.

Purpose of the Study:

To provide a comprehensive overview of genetic associations with different subtypes of grey matter heterotopia.
To aid clinicians in establishing differential and molecular diagnoses for patients with GMH.

Main Methods:

Extensive literature search across PubMed, OMIM, and Google Scholar.
Classification of heterotopias into periventricular nodular heterotopia (PVNH), subcortical band heterotopia (SBH), and other subcortical heterotopia (SUBH).
Compilation of genetic information, frequency, imaging, and salient features for each subtype.

Main Results:

Identified 105 PVNH, 16 SBH, and 25 SUBH gene/locus associations, totaling 146 genes and chromosomal loci.
Demonstrated the extreme genetic heterogeneity underlying GMH.
Detailed tables summarizing genetic and clinical features for each heterotopia subtype.

Conclusions:

GMH is characterized by significant genetic heterogeneity, involving numerous genes and loci.
This genetic landscape provides a crucial resource for differential and molecular diagnosis of GMH.
Accurate diagnosis enables improved patient counseling regarding prognosis, recurrence risks, and individualized management strategies.