A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

Area of Science:

• Neurogenetics
• Molecular Neuroscience
• Developmental Neuroscience

Background:

• The N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is crucial for synaptic plasticity and neuronal development.
• GRIN2B gene aberrations are linked to various neurodevelopmental disorders, indicating its critical role in brain function.

Purpose of the Study:

• To report a novel case of a Japanese boy with a large interstitial deletion encompassing the entire GRIN2B gene.
• To investigate the clinical phenotype associated with the complete deletion of GRIN2B.

Main Methods:

• Genetic analysis to identify the deletion.
• Clinical evaluation of the patient's neurodevelopmental status.

Main Results:

• Identification of an approximately 2 Mb interstitial deletion in chromosome 12p13, including the entire GRIN2B gene.
• The patient presented with intellectual disability, significant motor developmental delay, and marked macrocephaly.

Conclusions:

• Complete deletion of the GRIN2B gene can lead to severe neurodevelopmental deficits, including intellectual disability and macrocephaly.
• This case underscores the importance of the GRIN2B gene in normal brain development and function.