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Genet Test Mol Biomarkers. 2014 Jul;18(7):510-5. doi: 10.1089/gtmb.2014.0003. Epub 2014 May 15.

Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.

Author information

1
1 Graduate Program in Biomedical Sciences, Faculty of Medicine, Prince of Songkla University , Hat Yai, Songkhla, Thailand .

Abstract

AIM:

Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD).

METHODS:

The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115 Thai patients with ID and ASD by direct DNA sequencing.

RESULTS:

Nine novel variants of the NRXN1 gene were identified. Four novel variants were found in the β-NRXN1 gene, one variant of six GGC repeats in exon 1, and three variants at the 5'UTR. Five novel variants were identified in the α-NRXN1 gene, four intronic variants and one missense variant in exon 14 (c.2713T>A or p.F905I).

CONCLUSION:

Mutation screening of the NRXN1gene in patients with ID and ASD may be useful to identify potential variants predisposing to ID and ASD. However, further studies utilizing protein functional analysis of the novel variants are required for a more definite conclusion.

PMID:
24832020
PMCID:
PMC4094023
DOI:
10.1089/gtmb.2014.0003
[Indexed for MEDLINE]
Free PMC Article

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