Dup15q Syndrome Overview скачать в хорошем качестве

Dup15q Syndrome Overview

Vanessa Vogel-Farley, Executive Director, Dup15q Alliance discusses Dup15q syndrome, the common name for chromosome 15q11.2-q13.1 duplication 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.