102237 20230706131406.0 doi 10.1002/ajmg.a.61611 sideral 118270 ART-2020-118270 eng Cucco, F. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome 2020 Access copy available to the general public Unrestricted Cornelia de Lange syndrome (CdLS), Rubinstein–Taybi syndrome (RSTS), and KBG syndrome are three distinct developmental human disorders. Variants in seven genes belonging to the cohesin pathway, NIPBL, SMC1A, SMC3, HDAC8, RAD21, ANKRD11, and BRD4, were identified in about 80% of patients with CdLS, suggesting that additional causative genes remain to be discovered. Two genes, CREBBP and EP300, have been associated with RSTS, whereas KBG results from variants in ANKRD11. By exome sequencing, a genetic cause was elucidated in two patients with clinical diagnosis of CdLS but without variants in known CdLS genes. In particular, genetic variants in EP300 and ANKRD11 were identified in the two patients with CdLS. EP300 and ANKRD11 pathogenic variants caused the reduction of the respective proteins suggesting that their low levels contribute to CdLS-like phenotype. These findings highlight the clinical overlap between CdLS, RSTS, and KBG and support the notion that these rare disorders are linked to abnormal chromatin remodeling, which in turn affects the transcriptional machinery. info:eu-repo/grantAgreement/ES/DGA/B32-17R info:eu-repo/grantAgreement/ES/FIS/PI19-01860 info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 2.802 2020 GENETICS & HEREDITY 103 / 175 = 0.589 2020 Q3 T2 1.064 2020 Genetics (clinical) 2020 Q2 Genetics 2020 Q2 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Sarogni, P. Rossato, S. Alpa, M. Patimo, A. Latorre, A. (orcid)0000-0002-4703-6620 Magnani, C. Puisac, B. Universidad de Zaragoza (orcid)0000-0003-0170-7326 Ramos, F.J. Universidad de Zaragoza (orcid)0000-0002-5732-2209 Pié, J. Universidad de Zaragoza (orcid)0000-0003-3203-6254 Musio, A. 1012 410 Universidad de Zaragoza Dpto. Farmac.Fisiol.y Med.L.F. Área Fisiología 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 182, 7 (2020), 1690-1696 Am. J. Med. Genet. A American Journal of Medical Genetics, Part A 1552-4825 161510 http://zaguan.unizar.es/record/102237/files/texto_completo.pdf Postprint 1036192 http://zaguan.unizar.es/record/102237/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:102237 articulos driver 2023-07-06-12:20:38 ARTICLE