Publication
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Lohner, K., Vreeburg, M., Stevens, S. J. C., van der Burgt, I., Bongers, E. M. H. F., Stegmann, A. P. A., Rump, P., Rinne, T., Nelen, M. R., Veltman, J. A., Vissers, L. E. L. M., Brunner, H. G. & Gilissen, C., Sep-2016, In : Nature neuroscience. 19, 9, p. 1194-1196 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Documents
- Meta-analysis of 2,104 trios
Final publisher's version, 295 KB, PDF document
DOI
To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.
| Original language | English |
|---|---|
| Pages (from-to) | 1194-1196 |
| Number of pages | 3 |
| Journal | Nature neuroscience |
| Volume | 19 |
| Issue number | 9 |
| Publication status | Published - Sep-2016 |
- DE-NOVO MUTATIONS, AUTISM
Keywords
ID: 35901550