Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases
| العنوان: | Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases |
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| المؤلفون: | Luis A Alcaraz, Sara Álvarez, Mar Jimenez De La Peña, Pilar Tirado, James Hagman, Beatriz Calleja-Pérez, Andrea H. Németh, Alberto Fernández-Jaén, Ana Jiménez de Domingo, Jonathan H. Williams |
| المصدر: | Molecular Syndromology. 12:186-193 |
| بيانات النشر: | S. Karger AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Ataxia, business.industry, medicine.disease, Bioinformatics, Phenotype, Hypotonia, Neuroimaging, Genotype, Intellectual disability, Genetics, medicine, Autism, medicine.symptom, business, Genetics (clinical), Tractography |
| الوصف: | 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. |
| تدمد: | 1661-8777 1661-8769 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::7031d1e1cb2516ecebc5457b77839130 https://doi.org/10.1159/000513583 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........7031d1e1cb2516ecebc5457b77839130 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16618777 16618769 |
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