What is ebf3-ndd?

What is ebf3-ndd?

EBF3neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant.

Do EBF2 and EBF3 directly regulate Cajal-Retzius cell development?

Ebf2 and Ebf3, singly or together, control the migration of Cajal-Retzius cells arising in the cortical hem. These findings provide evidence that Ebfs directly regulate Cajal-Retzius cell development

What do we know about EBF3 mutant proteins?

By transactivation assays, all EBF3 mutants showed significantly reduced or no ability to activate transcription of the reporter gene CDKN1A, and in situ subcellular fractionation experiments demonstrated that EBF3 mutant proteins were less tightly associated with chromatin.

Does the EBF3 variant affect DNA binding in neurodevelopmental disorders?

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud. 2017;3:a001743.

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