Erratum: Investigation of modifier genes within copy number variations in Rett syndrome (Journal of Human Genetics (2011) 56:7 (508-515) DOI: 10.1038/jhg.2011.50);Investigation of modifier genes within copy number variations in Rett syndrome

Journal of Human Genetics

Volumn 56, Issue 7, 2011, Pages 508-515

  Artuso, Rosangela ^a   Papa, Filomena T ^a   Grillo, Elisa ^a   Mucciolo, Mafalda ^a   Yasui, Dag H ^b   Dunaway, Keith W ^b   Disciglio, Vittoria ^a   Mencarelli, Maria A ^a   Pollazzon, Marzia ^a   Zappella, Michele ^c   Hayek, Giuseppe ^d   Mari, Francesca ^a   Renieri, Alessandra ^a   Lasalle, Janine M ^b   Ariani, Francesca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Versilia Hospital   (Italy)

^d Siena General Hospital   (Italy)

Author keywords

copy number variants; modifier genes; Rett syndrome

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; CFHR1 GENE; CFHR3 GENE; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME 10Q; CHROMOSOME 1Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CROCC GENE; DISEASE SEVERITY; ENERGY BALANCE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GPRIN2 GENE; HUMAN; NEURITE; PHENOTYPE; PPYR1 GENE; RETT SYNDROME; SYNAPSE;

EID: 79960797993     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.30     Document Type: Erratum

References (65)

1. Trevathan, E. & Moser, H. W. Diagnostic criteria for Rett syndrome. Ann. Neurol. 23, 425-428 (1988). (Pubitemid 18098259)
2. Neul, J., Kaufmann, W., Glaze, D., Christodoulou, J., Clarke, A., Bahi-Buisson, N. et al. Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology 68, 944-950 (2010).
3. Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N. et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J. Med. Genet. 47, 49-53 (2010).
4. Zappella, M. The Rett girls with preserved speech. Brain Dev. 14, 98-101 (1992).
5. Renieri, A., Mari, F., Mencarelli, M. A., Scala, E., Ariani, F., Longo, I. et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev. 31, 208-216 (2009).
6. Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H. et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet. 75, 1079-1093 (2004). (Pubitemid 39532075)
7. Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I. et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. 42, 103-107 (2005). (Pubitemid 40204363)
8. Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A. et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am. J. Hum. Genet. 83, 89-93 (2008).
9. Zappella, M., Meloni, I., Longo, I., Hayek, G. & Renieri, A. Preserved speech variants of the Rett Syndrome: molecular and clinical analysis. Am. J. Med. Genet. 104, 14-22 (2001).
10. Hardwick, S. A., Reuter, K., Williamson, S. L., Vasudevan, V., Donald, J., Slater, K. et al. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur. J. Hum. Genet. 15, 1218-1229 (2007). (Pubitemid 350143178)
11. Amir, R. E., Van den Veyver, I. B., Schultz, R., Malicki, D. M., Tran, C. Q., Dahle, E. J. et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann. Neurol. 47, 670-679 (2000). (Pubitemid 30261908)
12. Scala, E., Longo, I., Ottimo, F., Speciale, C., Sampieri, K., Katzaki, E. et al. MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am. J. Med. Genet. A 143, 2775-2784 (2007). (Pubitemid 350228738)
13. Evans, J. C., Archer, H. L., Whatley, S. D. & Clarke, A. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin. Genet. 70, 336-338 (2006). (Pubitemid 44323400)
14. Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R. et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the earlyonset seizure variant of Rett syndrome. Hum. Mol. Genet. 14, 1935-1946 (2005). (Pubitemid 41418030)
15. Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J. et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J. Med. Genet. 44, 148-152 (2007).
16. Zoghbi, H. Y., Percy, A. K., Schultz, R. J. & Fill, C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev. 12, 131-135 (1990). (Pubitemid 20119245)
17. Sharp, A., Robinson, D. & Jacobs, P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum. Genet. 107, 343-349 (2000).
18. Anvret, M. & Wahlstrom, J. Rett syndrome: random X chromosome inactivation. Clin. Genet. 45, 274-275 (1994). (Pubitemid 24182757)
19. LaSalle, J. M., Goldstine, J., Balmer, D. & Greco, C. M. Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum. Mol. Genet. 10, 1729-1740 (2001). (Pubitemid 32899090)
20. Shahbazian, M. D., Sun, Y. & Zoghbi, H. Y. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am. J. Med. Genet. 111, 164-168 (2002). (Pubitemid 34809498)
21. Gibson, J. H., Williamson, S. L., Arbuckle, S. & Christodoulou, J. X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain Dev. 27, 266-270 (2005). (Pubitemid 40602867)
22. Nag, N., Mellott, T. J. & Berger-Sweeney, J. E. Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. Brain. Res. 1237, 101-109 (2008).
23. Lonetti, G., Angelucci, A., Morando, L., Boggio, E. M., Giustetto, M. & Pizzorusso, T. Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol. Psychiatry. 67, 657-665.
24. Aitman, T. J., Dong, R., Vyse, T. J., Norsworthy, P. J., Johnson, M. D., Smith, J. et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439, 851-855 (2006). (Pubitemid 43255703)
25. Mamtani, M., Rovin, B., Brey, R., Camargo, J. F., Kulkarni, H., Herrera, M. et al. CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. Ann. Rheum. Dis. 67, 1076-1083 (2008).
26. Hollox, E. J. Copy number variation of beta-defensins and relevance to disease. Cytogenet. Genome. Res. 123, 148-155 (2008).
27. Fellermann, K., Stange, D. E., Schaeffeler, E., Schmalzl, H., Wehkamp, J., Bevins, C. L. et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am. J. Hum. Genet. 79, 439-448 (2006). (Pubitemid 44384253)
28. Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J. et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003). (Pubitemid 37339619)
29. Ibanez, P., Bonnet, A. M., Debarges, B., Lohmann, E., Tison, F., Pollak, P. et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169-1171 (2004). (Pubitemid 39296605)
30. Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O. P., Ingason, A., Steinberg, S. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232-236 (2008).
31. Diskin, S. J., Hou, C., Glessner, J. T., Attiyeh, E. F., Laudenslager, M., Bosse, K. et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459, 987-991 (2009).
32. Frank, B., Hemminki, K., Meindl, A., Wappenschmidt, B., Sutter, C., Kiechle, M. et al. BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer 7, 83 (2007).
33. Karypidis, A. H., Olsson, M., Andersson, S. O., Rane, A. & Ekstrom, L. Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate. Pharmacogenomics J. 8, 147-151 (2008). (Pubitemid 351411551)
34. Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004). (Pubitemid 39167488)
35. Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006). (Pubitemid 44809057)
36. Sampieri, K., Meloni, I., Scala, E., Ariani, F., Caselli, R., Pescucci, C. et al. Italian Rett database and biobank. Hum. Mutat. 28, 329-335 (2007). (Pubitemid 46542919)
37. Pegoraro, E., Schimke, R. N., Arahata, K., Hayashi, Y., Stern, H., Marks, H. et al. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am. J. Hum. Genet. 54, 989-1003 (1994). (Pubitemid 24164394)
38. Hagberg, B., Hanefeld, F., Percy, A. & Skjeldal, O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome clinical criteria consensus panel satellite to European paediatric neurology society meeting, Baden Baden, Germany, 11 September 2001. Eur. J. Paediatr. Neurol. 6, 293-297 (2002).
39. Sampieri, K., Amenduni, M., Papa, F. T., Katzaki, E., Mencarelli, M. A., Marozza, A. et al. Array comparative genomic hybridization in retinoma and retinoblastoma tissues. Cancer Sci. 100, 465-471 (2009).
40. Yasui, D. H., Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P. et al. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc. Natl. Acad. Sci. USA 104, 19416-19421 (2007).
41. Yang, J., Liu, X., Yue, G., Adamian, M., Bulgakov, O. & Li, T. Rootletin, a novel coiledcoil protein, is a structural component of the ciliary rootlet. J. Cell. Biol. 159, 431-440 (2002). (Pubitemid 35332830)
42. Lee, J. H. & Gleeson, J. G. The role of primary cilia in neuronal function. Neurobiol. Dis. 38, 167-172.
43. McClintock, T. S., Glasser, C. E., Bose, S. C. & Bergman, D. A. Tissue expression patterns identify mouse cilia genes. Physiol. Genomics. 32, 198-206 (2008). (Pubitemid 351186327)
44. Badano, J. L., Mitsuma, N., Beales, P. L. & Katsanis, N. The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics. Hum. Genet. 7, 125-148 (2006). (Pubitemid 44627925)
45. Han, Y. G. & Alvarez-Buylla, A. Role of primary cilia in brain development and cancer. Curr. Opin. Neurobiol. 20, 58-67.
46. Male, D. A., Ormsby, R. J., Ranganathan, S., Giannakis, E. & Gordon, D. L. Complementfactor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol. Immunol. 37, 41-52 (2000). (Pubitemid 30316193)
47. Hughes, A. E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T. & Chakravarthy, U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat. Genet. 38, 1173-1177 (2006). (Pubitemid 44470363)
48. Raychaudhuri, S., Ripke, S., Li, M., Neale, B. M., Fagerness, J., Reynolds, R. et al. Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat. Genet. 42, 553-555. author reply 555-556.
49. Jozsi, M., Licht, C., Strobel, S., Zipfel, S. L., Richter, H., Heinen, S. et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 111, 1512-1514 (2008). (Pubitemid 351213440)
50. Derecki, N. C., Privman, E. & Kipnis, J. Rett syndrome and other autism spectrum disorders-Brain diseases of immune malfunction? Mol. Psychiatry 15, 355-363.
51. Stevens, B., Allen, N. J., Vazquez, L. E., Howell, G. R., Christopherson, K. S., Nouri, N. et al. The classical complement cascade mediates CNS synapse elimination. Cell 131, 1164-1178 (2007). (Pubitemid 350235022)
52. Armstrong, D. D. Neuropathology of Rett syndrome. J. Child Neurol. 20, 747-753 (2005). (Pubitemid 41498709)
53. Iida, N. & Kozasa, T. Identification and biochemical analysis of GRIN1 and GRIN2. Methods Enzymol. 390, 475-483 (2004). (Pubitemid 39370669)
54. Kamiji, M. M. & Inui, A. Neuropeptide y receptor selective ligands in the treatment of obesity. Endocr. Rev. 28, 664-684 (2007). (Pubitemid 47606651)
55. Sainsbury, A., Schwarzer, C., Couzens, M., Fetissov, S., Furtinger, S., Jenkins, A. et al. Important role of hypothalamic Y2 receptors in body weight regulation revealed in conditional knockout mice. Proc. Natl Acad. Sci. USA 99, 8938-8943 (2002). (Pubitemid 34693662)
56. Sha, B. Y., Yang, T. L., Zhao, L. J., Chen, X. D., Guo, Y., Chen, Y. et al. Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population. J. Hum. Genet. 54, 199-202 (2009).
57. Merla, G., Howald, C., Henrichsen, C. N., Lyle, R., Wyss, C., Zabot, M. T. et al. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am. J. Hum. Genet. 79, 332-341 (2006). (Pubitemid 44141831)
58. Gertler, F. B., Niebuhr, K., Reinhard, M., Wehland, J. & Soriano, P. Mena, a relative of VASP and Drosophila Enabled, is implicated in the control of microfilament dynamics. Cell 87, 227-239 (1996). (Pubitemid 26359001)
59. Lanier, L. M., Gates, M. A., Witke, W., Menzies, A. S., Wehman, A. M., Macklis, J. D. et al. Mena is required for neurulation and commissure formation. Neuron 22, 313-325 (1999). (Pubitemid 29109665)
60. Lin, Y. L., Lei, Y. T., Hong, C. J. & Hsueh, Y. P. Syndecan-2 induces filopodia and dendritic spine formation via the neurofibromin-PKA-Ena/VASP pathway. J. Cell. Biol. 177, 829-841 (2007).
61. Li, W., Li, Y. & Gao, F. B. Abelson, enabled, and p120 catenin exert distinct effects on dendritic morphogenesis in Drosophila. Dev. Dyn. 234, 512-522 (2005). (Pubitemid 41532974)
62. Kwiatkowski, A. V., Rubinson, D. A., Dent, E. W., Edward van Veen, J., Leslie, J. D., Zhang, J. et al. Ena/VASP is required for neuritogenesis in the developing cortex. Neuron 56, 441-455 (2007). (Pubitemid 350030877)
63. Dent, E. W., Kwiatkowski, A. V., Mebane, L. M., Philippar, U., Barzik, M., Rubinson, D. A. et al. Filopodia are required for cortical neurite initiation. Nat. Cell Biol. 9, 1347-1359 (2007). (Pubitemid 350201748)
64. Nectoux, J., Bahi-Buisson, N., Guellec, I., Coste, J., De Roux, N., Rosas, H. et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 70, 2145-2151 (2008).
65. Zeev, B. B., Bebbington, A., Ho, G., Leonard, H., de Klerk, N., Gak, E. et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 72, 1242-1247 (2009).