MUTATION ANALYSIS OF THE NRXN1 GENE
IN AUTISM SPECTRUM DISORDERS
Onay H1, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B
*Corresponding Author: Huseyin Onay, M.D., Ph.D., Department of Medical Genetics, Ege University School of
Medicine, Bornova, Izmir, Turkey. Tel: +90-232-3903961. Fax: +90-232-3903971. E-mail: onayhuseyin@ gmail.com;
huseyin.onay@ege.edu.tr
page: 17
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Abstract
The aim of this study was to identify the sequence
mutations in the Neurexin 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 the NRXN1
gene 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
carrying NRXN1 gene mutations were detected. It indicates
that variants in the NRXN1 gene might confer a risk of developing
nonsyndromic ASD. However, due to the reduced
penetrance in the gene, the causal role of the NRXN1 gene
mutations must be evaluated carefully in all cases.
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