| Title |
Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ
|
|---|---|
| Published in |
Human Genetics, February 2014
|
| DOI | 10.1007/s00439-014-1427-3 |
| Pubmed ID | |
| Authors |
John D. Eicher, Natalie R. Powers, Laura L. Miller, Kathryn L. Mueller, Sara Mascheretti, Cecilia Marino, Erik G. Willcutt, John C. DeFries, Richard K. Olson, Shelley D. Smith, Bruce F. Pennington, J. Bruce Tomblin, Susan M. Ring, Jeffrey R. Gruen |
| Abstract |
Reading disability (RD) and language impairment (LI) are common neurodevelopmental disorders with moderately strong genetic components and lifelong implications. RD and LI are marked by unexpected difficulty acquiring and processing written and verbal language, respectively, despite adequate opportunity and instruction. RD and LI-and their associated deficits-are complex, multifactorial, and often comorbid. Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319, in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. Here, we characterize the relationship of the DYX2 locus with RD, LI, and IQ. To accomplish this, we developed a marker panel densely covering the 1.4 Mb DYX2 locus and assessed association with reading, language, and IQ measures in subjects from the Avon Longitudinal Study of Parents and Children. We then replicated associations in three independent, disorder-selected cohorts. As expected, there were associations with known RD risk genes KIAA0319 and DCDC2. In addition, we implicated markers in or near other DYX2 genes, including TDP2, ACOT13, C6orf62, FAM65B, and CMAHP. However, the LD structure of the locus suggests that associations within TDP2, ACOT13, and C6orf62 are capturing a previously reported risk variant in KIAA0319. Our results further substantiate the candidacy of KIAA0319 and DCDC2 as major effector genes in DYX2, while proposing FAM65B and CMAHP as new DYX2 candidate genes. Association of DYX2 with multiple neurobehavioral traits suggests risk variants have functional consequences affecting multiple neurological processes. Future studies should dissect these functional, possibly interactive relationships of DYX2 candidate genes. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | 40% |
| Canada | 2 | 40% |
| United States | 1 | 20% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 2 | 40% |
| Members of the public | 2 | 40% |
| Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 71 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| Unknown | 70 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 12 | 17% |
| Student > Master | 11 | 15% |
| Student > Ph. D. Student | 10 | 14% |
| Professor | 6 | 8% |
| Researcher | 6 | 8% |
| Other | 13 | 18% |
| Unknown | 13 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 11 | 15% |
| Psychology | 10 | 14% |
| Neuroscience | 9 | 13% |
| Agricultural and Biological Sciences | 7 | 10% |
| Medicine and Dentistry | 7 | 10% |
| Other | 13 | 18% |
| Unknown | 14 | 20% |
Attention Score in Context
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