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Article

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

American journal of human genetics - 5 Jan 2017

Sleven Hannah, Welsh Seth J, Yu Jing, Churchill Mair E A, Wright Caroline F, Henderson Alex, Horvath Rita, Rankin Julia, Vogt Julie, Magee Alex, McConnell Vivienne, Green Andrew, King Mary D, Cox Helen, Armstrong Linlea, Lehman Anna, Nelson Tanya N, Williams Jonathan, Clouston Penny, Hagman James, Németh Andrea H

Abstract excerpt

Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of...

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Identifiers

PMID: 28017370
DOI: 10.1016/j.ajhg.2016.11.020
PMCID: PMC5223060

Genes

EBF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.PMID 28017370Read ↗

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Semantic proximity Read ↗

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationshipsSemantic proximity Read ↗

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.Semantic proximity Read ↗

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Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphismSemantic proximity Read ↗

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