[Analysis of EEF1A2 gene variant in a child with Global developmental delay]

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Molecular Biology

Background:

• Autosomal dominant disorders affecting neurodevelopment are often caused by variants in specific genes.
• The EEF1A2 gene plays a crucial role in neuronal development and function.
• Understanding the genetic basis of these disorders is vital for diagnosis and potential therapeutic strategies.

Purpose of the Study:

• To characterize the clinical features of a patient with an Autosomal dominant complex neurodevelopmental disorder.
• To identify the specific genetic variant responsible for the disorder in the patient.
• To explore the pathogenic mechanisms associated with EEF1A2 gene variants.

Main Methods:

• Case study of a pediatric patient presenting with global developmental delay.
• Whole exome sequencing (WES) to identify genetic variants.
• Literature review to contextualize findings within existing research on EEF1A2 gene variants.

Main Results:

• The patient exhibited global developmental delay, gait instability, muscle weakness, and absent language development.
• Whole exome sequencing identified a novel, de novo heterozygous missense variant: c.44A>G (p.H15R) in the EEF1A2 gene.
• The identified variant was classified as pathogenic according to ACMG guidelines.

Conclusions:

• The c.44A>G (p.H15R) variant in the EEF1A2 gene is likely the cause of the observed neurodevelopmental disorder.
• This discovery broadens the known mutational spectrum of the EEF1A2 gene.
• Further research into EEF1A2-related disorders is warranted.