La sindrome di Kleefstra

• Bock I, Németh K, Pentelényi K, et al. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. Gene 2016;595(2):131-41. doi: 10.1016/ j.gene.2016.09.027. • Cormier-Daire V, Molinari F, Rio M, et al. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? J Med Genet 2003;40(4):300-3. doi: 10.1136/jmg. 40.4.300. • Kleefstra T, Brunner HG, Amiel J, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006;79(2): 370-7. doi: 10.1086/505693. • Kleefstra T, Koolen DA, Nillesen WM, et al. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Am J Med Genet A 2006;140(6):618-23. doi: 10.1002/ajmg.a.31123. • Kleefstra T, Smidt M, Banning MJ, et al. Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005;42(4):299-306. doi: 10.1136/jmg.2004.028464. • Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009;46(9):598-606. doi: 10.1136/ jmg.2008.062950. • Verhoeven WMA, Kleefstra T, Egger JIM. Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients. Am J Med Genet B Neuropsychiatr Genet 2010;153B(2):536-41. doi: 10.1002/ajmg.b.31015. • Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JIM, Kleefstra T. Sleep disturbance as a precursor of severe regression in Kleefstra syndrome suggests a need for firm and rapid pharmacological treatment. Clin Neuropharmacol 2017;40(4):185-8. doi: 10. 1097/WNF.0000000000000226. • Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, et al. Update on Kleefstra syndrome. Mol Syndromol 2012;2(3-5):202-12. doi: 10.1159/000335648.