Evren Gumus1. 1. a Department of Medical Genetics, Faculty of Medicine , University of Harran , Sanliurfa , Turkey.
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.
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.
Authors: Elina Kari; Lorida Llaci; John L Go; Marcus Naymik; James A Knowles; Suzanne M Leal; Sampath Rangasamy; Matthew J Huentelman; Winnie Liang; Rick A Friedman; Isabelle Schrauwen Journal: Ear Hear Date: 2020 Jul/Aug Impact factor: 3.570