Mohammed A.M. Saleh
Profile Url: mohammed-a-m--saleh
Researcher at Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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Video Abstract (AI generated)
Paper
Preprint
From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChIP-seq experiments collectively show that the mutations are deleterious and impair EBF3 transcriptional regulation. These findings demonstrate that EBF3-mediated dysregulation of gene expression has profound effects on neuronal development in humans.