Journal article
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Abstract
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we …
Authors
Lionel AC; Tammimies K; Vaags AK; Rosenfeld JA; Ahn JW; Merico D; Noor A; Runke CK; Pillalamarri VK; Carter MT
Journal
Human Molecular Genetics, Vol. 23, No. 10, pp. 2752–2768
Publisher
Oxford University Press (OUP)
Publication Date
May 15, 2014
DOI
10.1093/hmg/ddt669
ISSN
0964-6906
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 9DNA Copy Number VariationsExonsFemaleGene ExpressionGenetic Association StudiesGenetic Predisposition to DiseaseGlycoproteinsHumansInfantInfant, NewbornMaleNerve Tissue ProteinsOrgan SpecificityPhenotypePolymorphism, Single NucleotideProtein IsoformsReceptors, Cell SurfaceRisk FactorsSequence DeletionTranscription FactorsTranscription Initiation SiteTripartite Motif ProteinsUbiquitin-Protein LigasesYoung Adult