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

ABSTRACT: Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (?-NRXN1) and beta-neurexin 1 (?-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).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.Nine novel variants of the NRXN1 gene were identified. Four novel variants were found in the ?-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 ?-NRXN1 gene, four intronic variants and one missense variant in exon 14 (c.2713T>A or p.F905I).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.

SUBMITTER: Yangngam S

PROVIDER: S-EPMC4094023 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature

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

Yangngam Supaporn S Plong-On Oradawan O Sripo Thanya T Roongpraiwan Rawiwan R Hansakunachai Tippawan T Wirojanan Juthamas J Sombuntham Tasnawat T Ruangdaraganon Nichara N Limprasert Pornprot P

Genetic testing and molecular biomarkers 20140515 7

<h4>Aim</h4>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).<h4>Methods</h4>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.<h4>Results</h4 ...[more]

PMID: 24832020

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Project description:Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD - ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies.

Dataset Information

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

Publications

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

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