Dataset Information

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

ABSTRACT: Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3.

SUBMITTER: Tanaka AJ

PROVIDER: S-EPMC5701309 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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

Tanaka Akemi J AJ Cho Megan T MT Willaert Rebecca R Retterer Kyle K Zarate Yuri A YA Bosanko Katie K Stefans Vikki V Oishi Kimihiko K Williamson Amy A Wilson Golder N GN Basinger Alice A Barbaro-Dieber Tina T Ortega Lucia L Sorrentino Susanna S Gabriel Melissa K MK Anderson Ilse J IJ Sacoto Maria J Guillen MJG Schnur Rhonda E RE Chung Wendy K WK

Cold Spring Harbor molecular case studies 20171121 6

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous s ...[more]

PMID: 29162653

Dataset Information

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

Publications

De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autism.

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