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Article in English | MEDLINE | ID: mdl-29162653

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.


Subject(s)
Transcription Factors/genetics , Transcription Factors/metabolism , Adolescent , Amino Acid Sequence/genetics , Ataxia/genetics , Autistic Disorder/genetics , Child , Child, Preschool , Conserved Sequence/genetics , Developmental Disabilities/genetics , Exome , Female , Humans , Infant , Intellectual Disability , Male , Muscle Hypotonia/genetics , Mutation , Neurodevelopmental Disorders/genetics , Prader-Willi Syndrome/genetics , Exome Sequencing/methods , Young Adult
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