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#x3e;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.
Mol Syndromol

中文翻译：

---

EBF3 突变患者的神经影像学发现：两例报告

早期 B 细胞因子 3 (EBF3) 是一种参与大脑发育的转录因子。已经在常染色体显性遗传神经发育综合征中报道了EBF3 中的杂合、功能丧失突变，其特征是张力减退、共济失调和发育迟缓（有时被描述为“HADD”）。我们报告了 2 例具有新EBF3 新突变的不相关病例：c.455G#x3e;T (p.Arg152Leu) 和 c.962dup (p.Tyr321*) 以扩展该疾病的基因型/表型相关性；临床、神经心理学和 MRI 研究用于定义表型。智商在正常范围内，弥散张量成像显示两种情况下的纵束不对称改变。我们的结果表明EBF3突变可能是没有智力障碍的神经发育障碍的基础。以前没有认识到长管异常，这表明它们可能是该综合征中未被识别的特征性特征。
摩尔综合征