title: Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Medical School, University of Athens, Athens, Greece. tina.volaki@gmail.com
authors.forename: Konstantina
authors.initials: K
authors.lastname: Volaki
authors.forename: Andreas
authors.initials: A
authors.lastname: Pampanos
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Christina
authors.initials: C
authors.lastname: Vrettou
authors.forename: Vasilis
authors.initials: V
authors.lastname: Oikonomakis
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleous
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005828:Genetics, Population; D006115:Greece; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D008565:Membrane Proteins; C430845:NLGN4X protein, human; D009419:Nerve Tissue Proteins; C098004:neuroligin 3