Dup15q Syndrome

Dup15q syndrome is the common name for chromosome 15q11.2-q13.1 duplication syndrome. This is a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15, that confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability.It is the most common genetic cause of autism, accounting for approximately 1-3% of cases. Dup15q syndrome includes both interstitial duplications and isodicentric duplications (i.e., Idic15) of 15q11.2-13.1.

Important genes likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. 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 and epilepsy. 

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Mike Porath talks about his daughter being diagnosed with Dup15q, a rare chromosomal duplication, and how his entire family has grown through the process of getting answers and support. For more information on Dup15q visit: http://www.dup15q.org/ Mike Porath is the creative genius behind The Mighty.com
Autism Live is a production of the Center for Autism and Related Disorders (CARD), headquartered in Tarzana, California, and with offices throughout, the United States and around the globe. For more information on therapy for autism and other related disorders, visit the CARD website at http://centerforautism.com