A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.

Abstract excerpt

Heterozygous variants in the Early B cell factor 3 ( EBF3 ) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual...

Topics

• Humans
• Male
• Intellectual Disability
• Codon, Nonsense
• Transcription Factors
• Genetic Association Studies
• Exome Sequencing
• Phenotype
• Child
• Transcriptional Activation