Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.

Autor: Alibutud R; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Hansali S; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Cao X; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Zhou A; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Mahaganapathy V; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Azaro M; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Gwin C; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Wilson S; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Buyske S; Department of Statistics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Bartlett CW; The Steve Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH 43205, USA., Flax JF; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Brzustowicz LM; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.; The Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA., Xing J; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.; The Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 26; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 26.
DOI: 10.3390/ijms241713248
Abstrakt: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restrictive interests and/or repetitive behaviors and deficits in social interaction and communication. ASD is a multifactorial disease with a complex polygenic genetic architecture. Its genetic contributing factors are not yet fully understood, especially large structural variations (SVs). In this study, we aimed to assess the contribution of SVs, including copy number variants (CNVs), insertions, deletions, duplications, and mobile element insertions, to ASD and related language impairments in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Within the cohort, ~77% of the families contain SVs that followed expected segregation or de novo patterns and passed our filtering criteria. These SVs affected 344 brain-expressed genes and can potentially contribute to the genetic etiology of the disorders. Gene Ontology and protein-protein interaction network analysis suggested several clusters of genes in different functional categories, such as neuronal development and histone modification machinery. Genes and biological processes identified in this study contribute to the understanding of ASD and related neurodevelopment disorders.
Databáze: MEDLINE
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