James R. Lupski
Profile Url: james-r--lupski
Researcher at Department of Molecular and Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, USA; Texas Children's Hospital, Houston, USA
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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.