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

Nature Neuroscience

Volumn 19, Issue 9, 2016, Pages 1194-1196

  Lelieveld, Stefan H ^a   Reijnders, Margot R F ^b   Pfundt, Rolph ^b   Yntema, Helger G ^b   Kamsteeg, Erik Jan ^b   De Vries, Petra ^b   De Vries, Bert B A ^b   Willemsen, Marjolein H ^b   Kleefstra, Tjitske ^b   Löhner, Katharina ^c   Vreeburg, Maaike ^d   Stevens, Servi J C ^d   Van Der Burgt, Ineke ^b   Bongers, Ernie M H F ^b   Stegmann, Alexander P A ^d   Rump, Patrick ^c   Rinne, Tuula ^b   Nelen, Marcel R ^b   Veltman, Joris A ^b,d   Vissers, Lisenka E L M ^b   Brunner, Han G ^b,d   Gilissen, Christian ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DLG4 PROTEIN; DNA BINDING PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; PROTEIN KINASE; PROTEIN PHOSPHATASE 1D MAGNESIUM DEPENDENT DELTA ISOFORM; PROTEIN SERINE THREONINE KINASE; RAC1 PROTEIN; SMAD6 PROTEIN; SON PROTEIN; SYNAPSE RECEPTOR; SYNAPTOTAGMIN BINDING CYTOPLASMIC RNA INTERACTING PROTEIN; TOUSLED LIKE KINASE 2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 20; TRANSCRIPTION FACTOR SOX5; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3 TRIP12; UNCLASSIFIED DRUG; CARRIER PROTEIN; DLG4 PROTEIN, HUMAN; MEMBRANE PROTEIN; MINOR HISTOCOMPATIBILITY ANTIGEN; PPM1D PROTEIN, HUMAN; PROTEIN KINASE U; PROTEIN PHOSPHATASE 2C; RAC1 PROTEIN, HUMAN; SIGNAL PEPTIDE; SMAD6 PROTEIN, HUMAN; SON PROTEIN, HUMAN; SOX5 PROTEIN, HUMAN; SYNCRIP PROTEIN, HUMAN; TCF20 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX; TRIP12 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; AUTISM; BRAIN DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXOME; FEMALE; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; META ANALYSIS (TOPIC); MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SCHIZOPHRENIA; STATISTICAL ANALYSIS; GENETICS; META ANALYSIS; MUTATION;

CARRIER PROTEINS; DNA-BINDING PROTEINS; EXOME; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MINOR HISTOCOMPATIBILITY ANTIGENS; MUTATION; PHENOTYPE; PROTEIN KINASES; PROTEIN PHOSPHATASE 2C; RAC1 GTP-BINDING PROTEIN; SMAD6 PROTEIN; SOXD TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS; UBIQUITIN-PROTEIN LIGASES;

EID: 84980373455     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.4352     Document Type: Article

References (20)

1. Gulsuner S, et al. Cell 154, 518-529 (2013).
2. Iossifov I, et al. Nature 515, 216-221 (2014).
3. Gilissen C, et al. Nature 511, 344-347 (2014).
4. O'Roak B.J, et al. Nat. Commun. 5, 5595 (2014).
5. Deciphering Developmental Disorders Study. Nature 519, 223-228 (2015).
6. Samocha K.E, et al. Nat. Genet. 46, 944-950 (2014).
7. Luscan A, et al. J. Med. Genet. 51, 512-517 (2014).
8. Lumish H.S, Wynn J, Devinsky O, & Chung W.K. J. Autism Dev. Disord. 45, 3764-3770 (2015).
9. Lek M, et al. Preprint at bioRxiv http://dx.doi.org/10.1101/030338 (2016).
10. Krumm N, O'Roak B.J, Shendure J, & Eichler E.E. Trends Neurosci. 37, 95-105 (2014).
11. McRae J.F, et al. Preprint at bioRxiv http://dx.doi.org/10.1101/049056 (2016).
12. Neveling K, et al. Hum. Mutat. 34, 1721-1726 (2013).
13. de Ligt J, et al. N. Engl. J. Med. 367, 1921-1929 (2012).
14. Strom S.P, et al. Genet. Med. 16, 510-515 (2014).
15. Genome Diagnostics Nijmegen. Gene Panel: Intellectual Disability https://www.radboudumc.nl/Informatievoorverwijzers/Genoomdiagnostiek/en/Pages/Intellectualdisability.aspx (2015).
16. Kong A, et al. Nature 488, 471-475 (2012).
17. Goeman J.J, & Solari A. Stat. Med. 33, 1946-1978 (2014).
18. MacArthur D.G, et al. Science 335, 823-828 (2012).
19. Zhu J, He F, Song S, Wang J, & Yu J. BMC Genomics 9, 172 (2008).
20. Petrovski S, Wang Q, Heinzen E.L, Allen A.S, & Goldstein D.B. PLoS Genet. 9, e1003709 (2013).