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.

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  • Meta-analysis of 2,104 trios

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  • Stefan H. Lelieveld
  • Margot R. F. Reijnders
  • Rolph Pfundt
  • Helger G. Yntema
  • Erik-Jan Kamsteeg
  • Petra de Vries
  • Bert B. A. de Vries
  • Marjolein H. Willemsen
  • Tjitske Kleefstra
  • Katharina Lohner
  • Maaike Vreeburg
  • Servi J. C. Stevens
  • Ineke van der Burgt
  • Ernie M. H. F. Bongers
  • Alexander P. A. Stegmann
  • Patrick Rump
  • Tuula Rinne
  • Marcel R. Nelen
  • Joris A. Veltman
  • Lisenka E. L. M. Vissers
  • Han G. Brunner
  • Christian Gilissen

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 languageEnglish
Pages (from-to)1194-1196
Number of pages3
JournalNature neuroscience
Issue number9
Publication statusPublished - Sep-2016



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