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Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Thuong T Ha^1,2, Rosemary Burgess³, Morgan Newman⁴

¹School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.

|August 26, 2023

Summary

This summary is machine-generated.

Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder. Genetic analysis revealed that AIC is not X-linked but genetically heterogeneous, with mutations in autosomal genes impacting cortical development.

Keywords:

DNA repair DNA sequencing X-linked developmental epileptic encephalopathy sex bias wnt signalling

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Published on: June 9, 2018

Area of Science:

Genetics
Neurodevelopmental Disorders
Genomics

Background:

Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile epileptic spasms.
Traditionally considered X-linked and male-lethal, AIC predominantly affects females, yet a unifying genetic cause remains elusive.
Diagnostic criteria have expanded beyond the classical triad to include additional observed phenotypes.

Purpose of the Study:

To identify the genetic underpinnings of Aicardi Syndrome.
To investigate the potential X-linked cause of AIC.
To explore the genetic heterogeneity of AIC.

Main Methods:

Whole exome and genome sequencing were performed on 10 females with AIC or suspected AIC.
Candidate autosomal variants were assessed for pathogenicity using TOPflash assay and zebrafish morpholino knockdown.
Genomic analyses included single nucleotide variants, short tandem repeats, and structural variations.

Main Results:

Five out of ten females had unique de novo variants in different autosomal genes: KMT2B, SLF1, SMARCB1, SZT2, and WNT8B.
Genomic analyses revealed a lack of X-linked candidate genes.
Wnt8b and Slf1 expression were found to be restricted to relevant cortical tissues during mouse development.

Conclusions:

Aicardi Syndrome is genetically heterogeneous, challenging the traditional X-linked inheritance model.
Implicated genes converge on molecular pathways crucial for cortical development.
These findings suggest novel therapeutic targets for AIC and related neurodevelopmental disorders.