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Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism

Volaki, Konstantinaa; Pampanos, Andreasa; Kitsiou-Tzeli, Sophiaa; Vrettou, Christinaa; Oikonomakis, Vasilisa; Sofocleous, Christalenaa; Kanavakis, Emmanuela,b

doi: 10.1097/YPG.0b013e3283643644
Original Articles

Molecular and neurobiological evidence for the involvement of neuroligins (particularly NLGN3 and NLGN4X genes) in autistic disorder is accumulating. However, previous mutation screening studies on these two genes have yielded controversial results. The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder. We analyzed the full exonic sequence of NLGN3 and NLGN4X genes in 40 patients strictly fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. criteria for autistic disorder. We identified nine nucleotide changes in NLGN4X – one probable causative mutation (p.K378R) previously reported by our research group, one novel variant (c.−206G>C), one nonvalidated single nucleotide polymorphism (SNP, rs111953947), and six known human SNPs reported in the SNP database – and one known human SNP in NLGN3 also reported in the SNP database. The variants identified are expected to be benign. However, they should be investigated in the context of variants in interacting cellular pathways to assess their contribution to the etiology of autism.

aDepartment of Medical Genetics, Medical School, University of Athens

bUniversity Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children’s Hospital, Athens, Greece

Correspondence to Konstantina Volaki, BSc, PhD, Department of Medical Genetics, Medical School, University of Athens, Aghia Sophia Children’s Hospital, Thivon and Levadias, 11527 Athens, Greece Tel: +30 210 7467469; fax: +30 210 7795553; e-mail:

Received December 22, 2011

Accepted December 16, 2012

© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins