A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Nature Genetics

Volumn 46, Issue 4, 2014, Pages 380-384

  Helsmoortel, Céline ^a   Vulto Van Silfhout, Anneke T ^b   Coe, Bradley P ^c,d   Vandeweyer, Geert ^a   Rooms, Liesbeth ^a   Van Den Ende, Jenneke ^e   Schuurs Hoeijmakers, Janneke H M ^b   Marcelis, Carlo L ^b   Willemsen, Marjolein H ^b   Vissers, Lisenka E L M ^b   Yntema, Helger G ^b   Bakshi, Madhura ^f   Wilson, Meredith ^g   Witherspoon, Kali T ^c,d   Malmgren, Helena ^h   Nordgren, Ann ^h   Annerén, Göran ⁱ   Fichera, Marco ^j,k   Bosco, Paolo ^j   Romano, Corrado ^j   De Vries, Bert B A ^b,l   Kleefstra, Tjitske ^b,l   Kooy, R Frank ^a   Eichler, Evan E ^c,d   Van Der Aa, Nathalie ^a,e   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f WESTMEAD HOSPITAL   (Australia)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ UPPSALA UNIVERSITY   (Sweden)

^j OASI RESEARCH INSTITUTE IRCCS   (Italy)

^k UNIVERSITY OF CATANIA   (Italy)

^l RADBOUD UNIVERSITY   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SWI; TRANSCRIPTION FACTOR SNF;

ADNP GENE; ARTICLE; AUTISM; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; FACE DYSMORPHIA; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HERITABILITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MALE; MOLECULAR DIAGNOSIS; MUTATOR GENE; PRIORITY JOURNAL; RETT SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON, NONSENSE; EXOME; FRAMESHIFT MUTATION; GENE COMPONENTS; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84898058158     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2899     Document Type: Article

References (56)

1. Autism and Developmental Disabilities Monitoring Network. Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill. Summ. 61, 1-19 (2012
2. O'Roak, B.J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012
3. Neale, B.M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012
4. Yu, T.W. et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 77, 259-273 (2013
5. Sanders, S.J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012
6. O'Roak, B.J. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet. 43, 585-589 (2011
7. Devlin, B. & Scherer, S.W. Genetic architecture in autism spectrum disorder. Curr. Opin. Genet. Dev. 22, 229-237 (2012
8. de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921-1929 (2012
9. Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012
10. Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502-1511 (2013
11. Vissers, L.E.L.M. et al. A de novo paradigm for mental retardation. Nat. Genet. 42, 1109-1112 (2010
12. Gillberg, C. & Billstedt, E. Autism and Asperger syndrome: Coexistence with other clinical disorders. Acta Psychiatr. Scand. 102, 321-330 (2000
13. Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372 (2010
14. Talkowski, M.E. et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149, 525-537 (2012
15. Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012
16. O'Roak, B.J. et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012
17. Mandel, S., Spivak-Pohis, I. & Gozes, I. ADNP differential nucleus/cytoplasm localization in neurons suggests multiple roles in neuronal differentiation and maintenance. J. Mol. Neurosci. 35, 127-141 (2008
18. Vulih-Shultzman, I. et al. Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. J. Pharmacol. Exp. Ther. 323, 438-449 (2007
19. Abecasis, G.R. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012
20. Gozes, I. et al. NAP: Research and development of a peptide derived from activity-dependent neuroprotective protein (ADNP). CNS Drug Rev. 11, 353-368 (2005
21. Bassan, M. et al. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J. Neurochem. 72, 1283-1293 (1999
22. Gozes, I. et al. Protection against developmental retardation in apolipoprotein E-deficient mice by a fatty neuropeptide: Implications for early treatment of Alzheimer's disease. J. Neurobiol. 33, 329-342 (1997
23. Mandel, S., Rechavi, G. & Gozes, I. Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev. Biol. 303, 814-824 (2007
24. Mosch, K., Franz, H., Soeroes, S., Singh, P.B. & Fischle, W. HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats. PLoS ONE 6, e15894 (2011
25. Smothers, J.F. & Henikoff, S. The HP1 chromo shadow domain binds a consensus peptide pentamer. Curr. Biol 10, 27-30 (2000
26. Pollard, K.S., Hubisz, M.J., Rosenbloom, K.R. & Siepel, A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 20, 110-121 (2010
27. Zuker, M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 31, 3406-3415 (2003
28. Nagy, E. & Maquat, L.E. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem. Sci. 23, 198-199 (1998
29. Schoenberg, D.R. & Maquat, L.E. Regulation of cytoplasmic mRNA decay. Nat. Rev. Genet. 13, 246-259 (2012
30. Kervestin, S. & Jacobson, A. NMD: A multifaceted response to premature translational termination. Nat. Rev. Mol. Cell Biol. 13, 700-712 (2012
31. Dresner, E., Agam, G. & Gozes, I. Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: Deregulation in schizophrenia. Eur. Neuropsychopharmacol. 21, 355-361 (2011
32. Zamostiano, R. et al. Cloning and characterization of the human activity-dependent neuroprotective protein. J. Biol. Chem. 276, 708-714 (2001
33. Aboonq, M.S., Vasiliou, S.A., Haddley, K., Quinn, J.P. & Bubb, V.J. Activity-dependent neuroprotective protein modulates its own gene expression. J. Mol. Neurosci. 46, 33-39 (2012
34. Pinhasov, A. et al. Activity-dependent neuroprotective protein: A novel gene essential for brain formation. Brain Res. Dev. Brain Res. 144, 83-90 (2003
35. Firth, H.V. et al. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. Am. J. Hum. Genet. 84, 524-533 (2009
36. Mandel, S. & Gozes, I. Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J. Biol. Chem. 282, 34448-34456 (2007
37. Ronan, J.L., Wu, W. & Crabtree, G.R. From neural development to cognition: Unexpected roles for chromatin. Nat. Rev. Genet. 14, 347-359 (2013
38. Lessard, J. et al. An essential switch in subunit composition of a chromatin remodeling complex during neural development. Neuron 55, 201-215 (2007
39. Kosho, T. et al. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Am. J. Med. Genet. 161A, 1221-1237 (2013
40. Santen, G.W. et al. Coffin-Siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Hum. Mutat. 34, 1519-1528 (2013
41. Hoyer, J. et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am. J. Hum. Genet. 90, 565-572 (2012
42. Ho, L. & Crabtree, G.R. Chromatin remodelling during development. Nature 463, 474-484 (2010
43. de la Serna, I.L., Carlson, K.A. & Imbalzano, A.N. Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation. Nat. Genet. 27, 187-190 (2001
44. Kemper, J.K., Kim, H., Miao, J., Bhalla, S. & Bae, Y. Role of an mSin3A-Swi/Snf chromatin remodeling complex in the feedback repression of bile acid biosynthesis by SHP. Mol. Cell. Biol. 24, 7707-7719 (2004
45. Choi, E.Y., Park, J.A., Sung, Y.H. & Kwon, H. Generation of the dominant-negative mutant of hArpNbeta: A component of human SWI/SNF chromatin remodeling complex. Exp. Cell Res. 271, 180-188 (2001
46. Tsurusaki, Y. et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat. Genet. 44, 376-378 (2012
47. Untergasser, A. et al. Primer3-new capabilities and interfaces. Nucleic Acids Res. 40, e115 (2012
48. Koressaar, T. & Remm, M. Enhancements and modifications of primer design program Primer3. Bioinformatics 23, 1289-1291 (2007
49. Giardine, B. et al. Galaxy: A platform for interactive large-scale genome analysis. Genome Res. 15, 1451-1455 (2005
50. Blankenberg, D. et al. Galaxy: A web-based genome analysis tool for experimentalists. Curr. Protoc. Mol Biol 89, 19.10.1-19.10.21 (2010
51. Goecks, J., Nekrutenko, A., Taylor, J. & Galaxy, T. Galaxy: A comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol. 11, R86 (2010
52. Van der Aa, N. et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur. J. Med. Genet. 52, 94-100 (2009
53. Vandeweyer, G., Van der Aa, N., Reyniers, E. & Kooy, R.F. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am. J. Hum. Genet. 90, 1071-1078 (2012
54. Vandesompele, J. et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3, 34.1-34.11 (2002
55. Yang, M.C., Weissler, J.C., Terada, L.S., Deng, F. & Yang, Y.S. Pleiomorphic adenoma gene-like-2, a zinc finger protein, transactivates the surfactant protein-C promoter. Am. J. Respir. Cell Mol. Biol. 32, 35-43 (2005
56. Lefever, S., Vandesompele, J., Speleman, F. & Pattyn, F. RTPrimerDB: The portal for real-time PCR primers and probes. Nucleic Acids Res. 37, D942-D945 (2009