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Abstract Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication.Case report: A boy with an… Click to show full abstract
Abstract Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication.Case report: A boy with an aggressive behavior, no speech and weak social relationships had a de novo Xq13.1 microduplication detected by microarray analysis.Conclusion: NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case. This supports that duplication of NLGN3 may be associated with ASD.
Journal Title: Fetal and Pediatric Pathology
Year Published: 2019
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