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Can I read Genome-wide Analysis Identifies a Role for Common Copy Number Variants in Specific Language Impairment on EtoBox?
Genome-wide Analysis Identifies a Role for Common Copy Number Variants in Specific Language Impairment by Nuala H Simpson; the SLI Consortium; Fabiola Ceroni; Rose H Reader; Laura E Covill; Julian C Knight; Elizabeth R Hennessy; Patrick F Bolton; Gina Conti-Ramsden; Anne O'Hare; Gillian Baird; Simon E Fisher; Dianne F Newbury is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Genome-wide Analysis Identifies a Role for Common Copy Number Variants in Specific Language Impairment about?
An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the average CNV size (63.75 vs 51.6 Kb, empirical P=0.0005) and the number of genes spanned (14.29 vs 10.34, empirical P=0.0007) when compared with population controls, suggesting that CNVs may contribute to SLI risk. A similar trend was observed in first-degree relatives regardless of affection status. The increased burden found in our study was not driven by large or de novo events, which have been described as causative in other neurodevelopmental disorders. Nevertheless, de novo CNVs might be important on a case-by-case basis, as indicated by identification of events affecting relevant genes, such as ACTR2 and CSNK1A1, and small events within known micro-deletion/-duplication syndrome regions, such as chr8p23.1. Pathway analysis of the genes present within the CNVs of the ind
Who reads Genome-wide Analysis Identifies a Role for Common Copy Number Variants in Specific Language Impairment?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Nuala H Simpson; the SLI Consortium; Fabiola Ceroni; Rose H Reader; Laura E Covill; Julian C Knight; Elizabeth R Hennessy; Patrick F Bolton; Gina Conti-Ramsden; Anne O'Hare; Gillian Baird; Simon E Fisher; Dianne F Newbury
- Publisher
- Nature Publishing Group; Springer Science and Business Media LLC; Natue Publishing Group; Wiley (ISSN 1018-4813)
- Published
- 2015
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)