2021年5月6日 · EBF3 neurodevelopmental 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.

2024年12月24日 · EBF3 (EBF Transcription Factor 3) is a Protein Coding gene. Diseases associated with EBF3 include Hypotonia, Ataxia, And Delayed Development Syndrome and Vesicoureteral Reflux. Among its related pathways is Differentiation of white and brown adipocyte. Gene Ontology (GO) annotations related to this gene include protein dimerization activity.

2024年6月1日 · Early B Cell Factor 3 (EBF3), a member of the highly evolutionarily conserved EBF-transcription factor family, is involved in neuronal development. EBF3 expression is low in the substantia nigra of patients with PD. However, whether EBF3 is implicated in dopaminergic neuron death during PD has not yet been investigated.

Clinical characteristics: EBF3 neurodevelopmental 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.

Here, we report that mutations in early B cell factor 3 (EBF3 [MIM: 607407]) cause a neurodevelopmental disorder. The mutations were initially missed as a result of low significance levels but were found on reanalysis of the DDD dataset by a simplified variant-prioritization strategy combined with functional investigations.

该基因编码早期 B 细胞因子 (EBF) DNA 结合转录因子家族的成员。 EBF 蛋白参与 B 细胞分化、骨骼发育和神经发生，并且还可能起到肿瘤抑制因子的作用。 编码的蛋白质通过调节参与细胞周期停滞和细胞凋亡的基因来抑制细胞存活，并且该基因的异常甲基化或缺失可能在多种恶性肿瘤中起作用，包括多形性胶质母细胞瘤和胃癌。 [RefSeq 提供，2011 年 9 月] This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors.

2025年2月8日 · findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic phenotypes shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structural CNS malformations

2024年1月24日 · EBF3 is a COE transcription factor, which regulate neurogenesis and differentiation (see EBF1; 164343). RT-PCR analysis detected EBF3 expression in normal adult brain, but expression was repressed in 4 glioma cell lines.

Heterozygous mutations in the EBF3 gene are associated with hypotonia, ataxia, and delayed development syndrome (HADDS; OMIM 617330), a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often ...

2017年1月5日 · Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders. Keywords: EBF3; de novo mutation; developmental delay; gene regulation; intellectual disability; transcription factor.