ArticleGenetic testing and molecular biomarkers2014
Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.
Article in Genetic testing and molecular biomarkers, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Screening forBioMed research international · 2021Article
- A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.Nucleic acids research · 2020Article
- Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2018Article
- Synaptopathology Involved in Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2018Review
- Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.Frontiers in cellular neuroscience · 2017Review
- Shedding of neurexin 3β ectodomain by ADAM10 releases a soluble fragment that affects the development of newborn neurons.Scientific reports · 2016Article
- Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder.Frontiers in physiology · 2015Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimNeurexin 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).
methodsThe 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.
resultsNine 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).
conclusionMutation 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.
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