title: A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.
abstract: Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic heterogeneity. During the last decade, predisposing genes and genetic loci were under investigation. Recently, mutations in two X-linked neuroligin genes, neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4), have been implicated in the pathogenesis of autism. In our ongoing survey, we screened 169 patients with autism for mutations linked with autism. In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. The same mutation has previously been found in a patient with autism. It is important that, for the first time, a specific mutation in neuroligins is confirmed in a molecular screen in another homogeneous ethnic population. This finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism.
authors: Department of Medical Genetics, Medical School, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors: Andreas
authors: A
authors: Pampanos
authors: Konstantina
authors: K
authors: Volaki
authors: Emmanuel
authors: E
authors: Kanavakis
authors: Ourania
authors: O
authors: Papandreou
authors: Sotiris
authors: S
authors: Youroukos
authors: Loretta
authors: L
authors: Thomaidis
authors: Savvas
authors: S
authors: Karkelis
authors: Maria
authors: M
authors: Tzetis
authors: Sophia
authors: S
authors: Kitsiou-Tzeli
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers; D005091:Exons; D006115:Greece; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D017931:DNA Primers; D008565:Membrane Proteins; C430845:NLGN4X protein, human