SETBP1 related developmental delay

Publications

  • Coe B. P., Witherspoon K., Rosenfeld J. A., van Bon B. W., Vulto-van Silfhout A. T., Bosco P., Friend K. L., et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 October; 46(10):1063-71.
  • C P Barnett C. P., van Bon B. W. M. Monogenic and chromosomal causes of isolated speech and language impairment. Am J Med Genet. 2015 July; 52: 719-729.
  • Marseglia G., Scordo M. R., Pescucci C., Nannetti G., Biagini E., Gerundino F., Magi A., et al. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. Eur J Med Genet. 2012 March; 55(3): 216–221.
  • Hamdan FF, Srour M, Capo-Chichi JM, et al. De novo mutations in moderate or severe intellectual disabilityPLoS Genet. 2014;10(10):e1004772. Published 2014 Oct 30. doi:10.1371/journal.pgen.1004772
  • Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854):1674-1682. doi:10.1016/S0140-6736(12)61480-9
  • Filges I, Shimojima K, Okamoto N, et al. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011;48(2):117-122. doi:10.1136/jmg.2010.084582
  • Eising E, Carrion-Castillo A, Vino A, et al. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech developmentMol Psychiatry. 2019;24(7):1065-1078. doi:10.1038/s41380-018-0020
  • Hildebrand MS, Jackson VE, Scerri TS, et al. Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationNeurology. 2020;94(20):e2148-e2167. doi:10.1212/WNL.0000000000009441

SETBP1 Society: http://www.setbp1.org/