Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

Abstract

Abstract Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes.

Keywords

• EEF1A2
• elongation factor‐1
• intellectual disability
• mutation
• Rett syndrome