Article
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
American journal of human genetics - 7 Mar 2013
Chen Xiaoli, Shen Yiping, Zhang Feng, Chiang Colby, Pillalamarri Vamsee, Blumenthal Ian, Talkowski Michael, Wu Bai-Lin, Gusella James F
Abstract excerpt
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes NRXN1 a deletion hotspot is unknown. Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong association with the autism spectrum and other neurodevelopmental disorders. Interestingly, deletions in both affected...
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