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Gene expression analysis of WT vs Wdr47 deficient primary neurons

GSE247160 Mus musculus Expression profiling by high throughput sequencing 8 samples Submitted 2024/11/06 Platform GPL21103
Summary
Corpus callosum (CC) is the largest interhemispheric connection that is largely formed by the axons of layer 2/3 callosal projection neurons (CPNs) through a series of tightly regulated cellular events.Defects in any of those steps may prevent the proper development of the corpus callosum resulting in a spectrum of disorders collectively referred to as corpus callosum dysgenesis (CCD). Here, we report 5 patients carrying bi-allelic variants in WDR47 presenting CCD together with microcephaly. Using a combination of in vitro and in vivo mouse models and complementation assays, we show that independently from its previously identified functions in neuronal migration and neurite extension, Wdr47 is required for survival of callosal neurons by contributing to the maintenance of mitochondrial and microtubule homeostasis. We further provide evidence that severity of the CCD phenotype is determined by the degree of the loss of function caused by the variants. Taken together, we identify WDR47 as a novel causative gene for corpus callosum abnormalities.
Published in
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
Bayam E, Tilly P, Collins SC et al. · EMBO molecular medicine 2025 · PMID 39609633 · doi:10.1038/s44321-024-00178-z
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Direct links to NCBI, no account and no request form: the whole study as GSE247160_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 8 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1036545 and SRA study SRP470544. Searching any of these in the dataset finder brings you back here.

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