title: Mutation analysis of theNRXN1gene in autism spectrum disorders.
abstract: The aim of this study was to identify the sequence mutations in theNeurexin 1(NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of theNRXN1gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carryingNRXN1gene mutations were detected. It indicates that variants in theNRXN1gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of theNRXN1gene mutations must be evaluated carefully in all cases.
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Onay
authors.affiliation: Department of Child and Adolescent Psychiatry, Ege University School of Medicine, Izmir, Turkey.
authors.forename: D
authors.initials: D
authors.lastname: Kacamak
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: A N
authors.initials: AN
authors.lastname: Kavasoglu
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Akgun
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Yalcinli
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Kose
authors.affiliation: Department of Medical Genetics, Ege University School of Medicine, Izmir, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Ozbaran
keywords: Autism spectrum disorder (ASD); Mutation; Neurexin 1 (NRXN1) gene; Sanger sequencing