title: Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
abstract: Language and communication development is a complex process influenced by numerous environmental and genetic factors. Many neurodevelopment disorders include deficits in language and communication skills in their diagnostic criteria, including autism spectrum disorders (ASD), language impairment (LI), and dyslexia. These disorders are polygenic and complex with a significant genetic component contributing to each. The similarity of language phenotypes and comorbidity of these disorders suggest that they may share genetic contributors. To test this, we examined the association of genes previously implicated in dyslexia, LI, and/or language-related traits with language skills in children with ASD. We used genetic and language data collected in the Autism Genome Research Exchange (AGRE) and Simons Simplex Collection (SSC) cohorts to perform a meta-analysis on performance on a receptive vocabulary task. There were associations with LI risk gene ATP2C2 and dyslexia risk gene MRPL19. Additionally, we found suggestive evidence of association with CMIP, GCFC2, KIAA0319L, the DYX2 locus (ACOT13, GPLD1, and FAM65B), and DRD2. Our results show that LI and dyslexia genes also contribute to language traits in children with ASD. These associations add to the growing literature of generalist genes that contribute to multiple related neurobehavioral traits. Future studies should examine whether other genetic contributors may be shared among these disorders and how risk variants interact with each other and the environment to modify clinical presentations.
authors.affiliation: Department of Genetics, Yale University, New Haven, Connecticut.
authors.forename: John D
authors.initials: JD
authors.lastname: Eicher
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Gruen
mesh_terms: D000067877:Autism Spectrum Disorder / Q000150:complications / Q000235:genetics*; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002648:Child; D004410:Dyslexia / Q000150:complications / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007805:Language Development Disorders / Q000150:complications / Q000235:genetics*; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D012269:Ribosomal Proteins / Q000235:genetics*; D014825:Vocabulary
chemical_list: D005819:Genetic Markers; C496590:MRPL19 protein, human; D024101:Mitochondrial Proteins; D012269:Ribosomal Proteins; C452183:ATP2C2 protein, human; D000252:Calcium-Transporting ATPases
keywords: ATP2C2; MRPL19; autism spectrum disorders; dyslexia; language; language impairment