Key result
Patients with novel de novo EBF3 mutations exhibited normal IQ and asymmetric alterations of the longitudinal fasciculus on diffusion tensor imaging.
Why the study?
The study was conducted to expand the genotype and phenotype correlations of an autosomal dominant neurodevelopmental syndrome caused by heterozygous loss-of-function EBF3 mutations.
Case Report (n=2)
EBF3 mutations can underlie neurodevelopmental disorders without intellectual disability and may present with previously unrecognized long tract abnormalities on neuroimaging.
Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in EBF3 have been reported in an autosomal dominant neurodevelopmental syndrome characterized by hypotonia, ataxia, and developmental delay (sometimes described as “HADD”s). We report 2 unrelated cases with novel de novo EBF3 mutations: c.455G>T (p.Arg152Leu) and c.962dup (p.Tyr321*) to expand the genotype/phenotype correlations of this disorder; clinical, neuropsychological, and MRI studies were used to define the phenotype. IQ was in the normal range and diffusion tensor imaging revealed asymmetric alterations of the longitudinal fasciculus in both cases. Our results demonstrate that EBF3 mutations can underlie neurodevelopmental disorders without intellectual disability. Long tract abnormalities have not been previously recognized and suggest that they may be an unrecognized and characteristic feature in this syndrome.
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Peña et al. (2021) conducted a case report in EBF3 mutations (n=2). EBF3 mutations (c.455G>T and c.962dup) was evaluated on Clinical, neuropsychological, and MRI phenotype. Patients with novel de novo EBF3 mutations exhibited normal IQ and asymmetric alterations of the longitudinal fasciculus on diffusion tensor imaging.
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