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  Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

Devanna, P., Van de Vorst, M., Pfundt, R., Gilissen, C., & Vernes, S. C. (2018). Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression. Human Genetics, 137(9), 717-721. doi:10.1007/s00439-018-1925-9.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0001-EAA4-E Version Permalink: https://hdl.handle.net/21.11116/0000-0003-BAE8-6
Genre: Journal Article

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 Creators:
Devanna, Paolo1, Author           
Van de Vorst, Maartje2, Author
Pfundt, Rolph2, Author
Gilissen, Christian2, Author
Vernes, Sonja C.1, 3, Author           
Affiliations:
1Neurogenetics of Vocal Communication Group, MPI for Psycholinguistics, Max Planck Society, ou_2231636              
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands, ou_persistent22              
3Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              

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 Abstract: Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

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Language(s): eng - English
 Dates: 2018-08-102018-09
 Publication Status: Issued
 Pages: -
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 Rev. Type: Peer
 Identifiers: DOI: 10.1007/s00439-018-1925-9
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Title: Human Genetics
Source Genre: Journal
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Publ. Info: Berlin : Springer-Verlag
Pages: - Volume / Issue: 137 (9) Sequence Number: - Start / End Page: 717 - 721 Identifier: ISSN: 0340-6717
CoNE: https://pure.mpg.de/cone/journals/resource/954925519623