<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The aim of this study was to identify the sequence mutations in the <italic>Neurexin 1</italic> (<italic>NRXN1</italic>) 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 <italic>NRXN1</italic> 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 <italic>NRXN1</italic> gene mutations were detected. It indicates that variants in the <italic>NRXN1</italic> gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the <italic>NRXN1</italic> gene mutations must be evaluated carefully in all cases.</p></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.

Mutation analysis of the  <italic>NRXN1</italic> gene in autism spectrum disorders

Department of Child and Adolescent Psychiatry

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Mutation analysis of the   gene in autism spectrum disorders

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...

Mutation analysis of the NRXN1 gene in autism spectrum disorders

Article Category: Original Article

Data publikacji: 31 gru 2016

Zakres stron: 17 - 22

DOI: https://doi.org/10.1515/bjmg-2016-0031

Słowa kluczowe
Autism spectrum disorder (ASD), () gene, Mutation, Sanger sequencing

© 2016 Onay H, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Mutation analysis of the NRXN1 gene in autism spectrum disorders

Article Category: Original Article

Data publikacji: 31 gru 2016

Zakres stron: 17 - 22

DOI: https://doi.org/10.1515/bjmg-2016-0031

Słowa kluczoweAutism spectrum disorder (ASD), () gene, Mutation, Sanger sequencing

© 2016 Onay H, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Słowa kluczowe
Autism spectrum disorder (ASD), () gene, Mutation, Sanger sequencing