Dup15q

This is a genomic copy number variant that leads to a type of neurodevelopmental disorder, caused by partial duplication of the proximal long arm of Chromosome 15.

This variant confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability.

UBE3A is a ubiquitin-protein ligase that is involved in targeting proteins for degradation and plays an important role in synapse function.

GABRA5, GABRB3, and GABRG3 are gamma aminobutyric acid type A (GABAA) receptor subunit genes and are likely important in Dup15q syndrome given the established role of GABA in the etiologies of autism[3] and epilepsy.

[9] It is involved in protein degradation via the ubiquitin pathway and also plays an important role in synaptic functioning.

Patients with Dup15q syndrome feature a distinctive electroencephalography (EEG) signature or biomarker in the form of high amplitude spontaneous beta frequency (12–30 Hz) oscillations.

Spontaneous EEG recordings (right) from a 28-month-old child with Dup15q syndrome show diffuse beta frequency oscillations that represent an EEG signature of Dup15q. [ 1 ]