Publication: Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder
Issued Date
2014-07-01
Resource Type
ISSN
19450257
19450265
19450265
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2-s2.0-84904279820
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Mahidol University
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SCOPUS
Bibliographic Citation
Genetic Testing and Molecular Biomarkers. Vol.18, No.7 (2014), 510-515
Suggested Citation
Supaporn Yangngam, Oradawan Plong-On, Thanya Sripo, Rawiwan Roongpraiwan, Tippawan Hansakunachai, Juthamas Wirojanan, Tasnawat Sombuntham, Nichara Ruangdaraganon, Pornprot Limprasert Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder. Genetic Testing and Molecular Biomarkers. Vol.18, No.7 (2014), 510-515. doi:10.1089/gtmb.2014.0003 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/34231
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Title
Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder
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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. © 2014, Mary Ann Liebert, Inc.