Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

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 Veltman; Lisenka E. L. M. Vissers; Han G. Brunner; Christian Gilissen

doi:10.1038/nn.4352

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

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 Veltman
, Lisenka E. L. M. Vissers

Han G. Brunner, Christian Gilissen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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
DOIs	https://doi.org/10.1038/nn.4352
Publication status	Published - Sept 2016

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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., ... Gilissen, C. (2016). Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience, 19(9), 1194-1196. https://doi.org/10.1038/nn.4352

@article{82d5722017c346c89a434a69ea12a8fd,

title = "Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability",

abstract = "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.",

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

year = "2016",

month = sep,

doi = "10.1038/nn.4352",

language = "English",

volume = "19",

pages = "1194--1196",

journal = "Nature Neuroscience",

issn = "1097-6256",

publisher = "Nature Research",

number = "9",

}

Lelieveld, SH, Reijnders, MRF, Pfundt, R, Yntema, HG, Kamsteeg, E-J, de Vries, P, de Vries, BBA, Willemsen, MH, Kleefstra, T, Lohner, K, Vreeburg, M , Stevens, SJC, van der Burgt, I, Bongers, EMHF, Stegmann, APA, Rump, P, Rinne, T, Nelen, MR, Veltman, J, Vissers, LELM, Brunner, HG & Gilissen, C 2016, 'Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability', Nature Neuroscience, vol. 19, no. 9, pp. 1194-1196. https://doi.org/10.1038/nn.4352

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 -

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Abstract

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