Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

Journal of Autism and Developmental Disorders

Volumn 45, Issue 11, 2015, Pages 3764-3770

  Lumish, Heidi S ^a   Wynn, Julia ^b   Devinsky, Orrin ^c   Chung, Wendy K ^b  

^a Columbia University ^*  (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Autism; Autism spectrum disorder; Intellectual disability; SETD2; Whole exome sequencing

Indexed keywords

HISTONE METHYLTRANSFERASE; LAMOTRIGINE; SETD2 PROTEIN; UNCLASSIFIED DRUG; HISTONE LYSINE METHYLTRANSFERASE; SET2 PROTEIN, HUMAN;

ADOLESCENT; ANTICONVULSANT THERAPY; ANXIETY DISORDER; ARNOLD CHIARI MALFORMATION; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; MACROCEPHALY; MONOTHERAPY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SYRINGOMYELIA; TONIC CLONIC SEIZURE; COMPLICATION; GENETICS; MUTATION;

ADOLESCENT; AUTISM SPECTRUM DISORDER; EPILEPSY; FEMALE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INTELLECTUAL DISABILITY; MUTATION;

EID: 84944512719     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-015-2484-8     Document Type: Article

References (28)

1. Adegbola, A., Gao, H., Sommer, S., & Browning, M. (2008). A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A,146A(4), 505–511. doi:10.1002/ajmg.a.32142.
2. Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., et al. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell,158(2), 263–276. doi:10.1016/j.cell.2014.06.017.
3. Carrozza, M. J., Li, B., Florens, L., Suganuma, T., Swanson, S. K., Lee, K. K., et al. (2005). Histone H3 methylation by Set2 directs deacetylation of coding regions by Rpd3S to suppress spurious intragenic transcription. Cell,123(4), 581–592. doi:10.1016/j.cell.2005.10.023.
4. Carvalho, S., Raposo, A. C., Martins, F. B., Grosso, A. R., Sridhara, S. C., Rino, J., et al. (2013). Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription. Nucleic Acids Research,41(5), 2881–2893. doi:10.1093/nar/gks1472.
5. De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Cicek, A. E., et al. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature,515(7526), 209–215. doi:10.1038/nature13772.
6. DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., et al. (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics,43(5), 491–498. doi:10.1038/ng.806.
7. Fischbach, G. D., & Lord, C. (2010). The Simons Simplex Collection: A resource for identification of autism genetic risk factors. Neuron,68(2), 192–195. doi:10.1016/j.neuron.2010.10.006.
8. Greer, E. L., & Shi, Y. (2012). Histone methylation: A dynamic mark in health, disease and inheritance. Nature Reviews Genetics,13(5), 343–357. doi:10.1038/nrg3173.
9. Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., et al. (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics,90(3), 565–572. doi:10.1016/j.ajhg.2012.02.007.
10. Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., et al. (2014). The contribution of de novo coding mutations to autism spectrum disorder. Nature,515(7526), 216–221. doi:10.1038/nature13908.
11. Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., et al. (2012). De novo gene disruptions in children on the autistic spectrum. Neuron,74(2), 285–299. doi:10.1016/j.neuron.2012.04.009.
12. Keogh, M. C., Kurdistani, S. K., Morris, S. A., Ahn, S. H., Podolny, V., Collins, S. R., et al. (2005). Cotranscriptional set2 methylation of histone H3 lysine 36 recruits a repressive Rpd3 complex. Cell,123(4), 593–605. doi:10.1016/j.cell.2005.10.025.
13. Lasalle, J. M. (2013). Autism genes keep turning up chromatin. OA Autism,1(2), 14.
14. Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics,25(14), 1754–1760. doi:10.1093/bioinformatics/btp324.
15. Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., et al. (2009). The sequence alignment/map format and SAMtools. Bioinformatics,25(16), 2078–2079. doi:10.1093/bioinformatics/btp352.
16. Luco, R. F., Pan, Q., Tominaga, K., Blencowe, B. J., Pereira-Smith, O. M., & Misteli, T. (2010). Regulation of alternative splicing by histone modifications. Science,327(5968), 996–1000. doi:10.1126/science.1184208.
17. Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., et al. (2014). Mutations in SETD2 cause a novel overgrowth condition. Journal of Medical Genetics. doi:10.1136/jmedgenet-2014-102402.
18. Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature,485(7397), 242–245. doi:10.1038/nature11011.
19. O’Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., et al. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics,43(6), 585–589. doi:10.1038/ng.835.
20. O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., et al. (2012a). Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science,338(6114), 1619–1622. doi:10.1126/science.1227764.
21. O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., et al. (2012b). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature,485(7397), 246–250. doi:10.1038/nature10989.
22. Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature,466(7304), 368–372. doi:10.1038/nature09146.
23. Ronan, J. L., Wu, W., & Crabtree, G. R. (2013). From neural development to cognition: Unexpected roles for chromatin. Nature Reviews Genetics,14(5), 347–359. doi:10.1038/nrg3413.
24. Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron,70(5), 863–885. doi:10.1016/j.neuron.2011.05.002.
25. Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature,485(7397), 237–241. doi:10.1038/nature10945.
26. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science,316(5823), 445–449. doi:10.1126/science.1138659.
27. Shen, E., Shulha, H., Weng, Z., & Akbarian, S. (2014). Regulation of histone H3K4 methylation in brain development and disease. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. doi:10.1098/rstb.2013.0514.
28. Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics,39(3), 319–328. doi:10.1038/ng1985.