Publication Date

11-2017

Document Type

Article

Organizational Units

College of Arts Humanities and Social Sciences, Psychology

Keywords

Reading, Language phenotypes, Reading disability, Genes

Abstract

Eleven loci with prior evidence for association with reading and language phenotypes were sequenced in 96 unrelated subjects with significant impairment in reading performance drawn from the Colorado Learning Disability Research Center collection. Out of 148 total individual missense variants identified, the chromosome 7 genes CCDC136 and FLNC contained 19. In addition, a region corresponding to the well-known DYX2 locus for RD contained 74 missense variants. Both allele sets were filtered for a minor allele frequency ≤0.01 and high Polyphen-2 scores. To determine if observations of these alleles are occurring more frequently in our cases than expected by chance in aggregate, counts from our sample were compared to the number of observations in the European subset of the 1000 Genomes Project using Fisher’s exact test. Significant P values were achieved for both CCDC136/FLNC (P = 0.0098) and the DYX2 locus (P = 0.012). Taken together, this evidence further supports the influence of these regions on reading performance. These results also support the influence of rare variants in reading disability.

Copyright Date

9-2-2017

Copyright Statement / License for Reuse

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

Rights Holder

Andrew K. Adams, Shelley D. Smith, Dongnhu T. Truong, Erik G. Willcutt, Richard K. Olson, John C. DeFries, Bruce F. Pennington, and Jeffrey R. Gruen

Provenance

Received from CHORUS

File Format

application/pdf

Language

English (eng)

Extent

11 pgs

File Size

854 KB

Publication Statement

Copyright is held by the authors. User is responsible for all copyright compliance. This article was originally published as:

Adams, A. K., Smith, S. D., Truong, D. T., Willcutt, E. G., Olson, R. K., DeFries, J. C., . . ., & Gruen, J. R. (2017). Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Human Genetics, 136(11), 1395-1405. https://doi.org/10.1007/s00439-017-1838-z

Publication Title

Human Genetics

Volume

136

Issue

11

First Page

1395

Last Page

1405

ISSN

1432-1203

PubMed ID

28866788

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