TY - JOUR
T1 - Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
AU - Lelieveld, Stefan H.
AU - Reijnders, Margot R. F.
AU - Pfundt, Rolph
AU - Yntema, Helger G.
AU - Kamsteeg, Erik-Jan
AU - de Vries, Petra
AU - de Vries, Bert B. A.
AU - Willemsen, Marjolein H.
AU - Kleefstra, Tjitske
AU - Lohner, Katharina
AU - Vreeburg, Maaike
AU - Stevens, Servi J. C.
AU - van der Burgt, Ineke
AU - Bongers, Ernie M. H. F.
AU - Stegmann, Alexander P. A.
AU - Rump, Patrick
AU - Rinne, Tuula
AU - Nelen, Marcel R.
AU - Veltman, Joris
AU - Vissers, Lisenka E. L. M.
AU - Brunner, Han G.
AU - Gilissen, Christian
PY - 2016/9
Y1 - 2016/9
N2 - 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.
AB - 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.
U2 - 10.1038/nn.4352
DO - 10.1038/nn.4352
M3 - Article
C2 - 27479843
SN - 1097-6256
VL - 19
SP - 1194
EP - 1196
JO - Nature Neuroscience
JF - Nature Neuroscience
IS - 9
ER -