Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report

Area of Science:

• Genetics
• Molecular Biology
• Neurodevelopmental Disorders

Background:

• Global developmental delay (GDD) is a significant neurodevelopmental disorder often requiring genetic investigation.
• Whole exome sequencing (WES) is a powerful tool for identifying genetic variants underlying complex phenotypes.
• The human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) gene's role in neurodevelopment is not fully elucidated.

Observation:

• A 5-year-old boy presented with global developmental delay for medical genetic evaluation.
• Whole exome sequencing identified a de novo heterogenous variant, p.Gln1248Ter (c.3742C>T), in exon 5 of the HIVEP2 gene.
• This specific variant, p.Q1248*, was inherited from neither parent.

Findings:

• The identified HIVEP2 gene variant (p.Q1248*) is interpreted as pathogenic and associated with the patient's intellectual disability.
• This represents the first reported case demonstrating the pathogenicity of the p.Q1248* variant in HIVEP2.
• Pathomechanisms associated with HIVEP2 variants are reviewed to support the pathogenicity of this novel finding.

Implications:

• This study expands the known genetic spectrum of intellectual disability by implicating a novel HIVEP2 variant.
• Understanding the role of HIVEP2 in neurodevelopment can inform future diagnostic and therapeutic strategies.
• Further research into HIVEP2 function may uncover critical pathways involved in cognitive development.