MUTATION ANALYSIS OF THE NRXN1 GENE IN AUTISM SPECTRUM DISORDERS


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ONAY H. , KACAMAK D., KAVASOGLU A. N. , AKGÜN B. , YALCINLI M., KÖSE S. , et al.

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.19, ss.17-21, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 19 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/bjmg-2016-0031
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayısı: ss.17-21

Özet

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.