Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
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چکیده
76 From a GeneMatcher-enabled international collaboration, we identified ten individuals with 77 intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, 78 encoding a transcription factor required for neuronal differentiation. Structural assessments, 79 transactivation assays, in situ fractionation, RNA-seq and ChIP-seq experiments collectively 80 show that the mutations are deleterious and impair EBF3 transcriptional regulation. These 81 findings demonstrate that EBF3-mediated dysregulation of gene expression has profound 82 effects on neuronal development in humans. 83
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تاریخ انتشار 2016