EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable

Area of Science:

• Genetics and Molecular Biology
• Neuroscience
• Developmental Biology

Background:

• The EEF2 gene encodes eukaryotic elongation factor 2, crucial for protein translation and neuronal function.
• EEF2 variants have been previously linked to adult-onset spinocerebellar ataxia type 26 (SCA26).
• A rare neurodevelopmental disorder associated with de novo heterozygous EEF2 variants has been recently identified, with limited cases reported.

Purpose of the Study:

• To describe a novel case of EEF2-related neurodevelopmental disorder in a pediatric patient.
• To identify key clinical features that may aid in the recognition of this disorder.
• To contribute to the understanding of the clinical spectrum of EEF2-related neurodevelopmental disorder.

Main Methods:

• Whole exome sequencing (WES) was performed on a pediatric patient presenting with autism spectrum disorder.
• Genetic analysis identified a de novo missense variant in the EEF2 gene.
• Clinical examination and comparison with existing literature were used to assess phenotypic characteristics.

Main Results:

• A nine-year-old male with autism spectrum disorder was found to have a de novo EEF2 variant (c.1225 C>T: p. (R409W)).
• The patient exhibited relative macrocephaly and frontal prominence.
• These findings align with previously reported cases, suggesting recognizable clinical features.

Conclusions:

• EEF2-related neurodevelopmental disorder is a clinically recognizable condition.
• Relative macrocephaly and frontal prominence are consistent and identifiable features.
• This disorder should be considered in children with autism, developmental delays, intellectual disability, macrocephaly, and frontal prominence.