Article
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Autism research : official journal of the International Society for Autism Research - 1 Jun 2014
Chaste Pauline, Sanders Stephan J, Mohan Kommu N, Klei Lambertus, Song Youeun, Murtha Michael T, Hus Vanessa, Lowe Jennifer K, Willsey A Jeremy, Moreno-De-Luca Daniel, Yu Timothy W, Fombonne Eric, Geschwind Daniel, Grice Dorothy E, Ledbetter David H, Lord Catherine, Mane Shrikant M, Martin Donna M, Morrow Eric M, Walsh Christopher A, Sutcliffe James S, State Matthew W, Martin Christa Lese, Devlin Bernie, Beaudet Arthur L, Cook Edwin H, Kim Soo-Jeong
Abstract excerpt
The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of...
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