000102237 001__ 102237
000102237 005__ 20230706131406.0
000102237 0247_ $$2doi$$a10.1002/ajmg.a.61611
000102237 0248_ $$2sideral$$a118270
000102237 037__ $$aART-2020-118270
000102237 041__ $$aeng
000102237 100__ $$aCucco, F.
000102237 245__ $$aPathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
000102237 260__ $$c2020
000102237 5060_ $$aAccess copy available to the general public$$fUnrestricted
000102237 5203_ $$aCornelia 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.
000102237 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/FIS/PI19-01860
000102237 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000102237 590__ $$a2.802$$b2020
000102237 591__ $$aGENETICS & HEREDITY$$b103 / 175 = 0.589$$c2020$$dQ3$$eT2
000102237 592__ $$a1.064$$b2020
000102237 593__ $$aGenetics (clinical)$$c2020$$dQ2
000102237 593__ $$aGenetics$$c2020$$dQ2
000102237 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000102237 700__ $$aSarogni, P.
000102237 700__ $$aRossato, S.
000102237 700__ $$aAlpa, M.
000102237 700__ $$aPatimo, A.
000102237 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre, A.
000102237 700__ $$aMagnani, C.
000102237 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza
000102237 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.J.$$uUniversidad de Zaragoza
000102237 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza
000102237 700__ $$aMusio, A.
000102237 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000102237 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000102237 773__ $$g182, 7 (2020), 1690-1696$$pAm. J. Med. Genet. A$$tAmerican Journal of Medical Genetics, Part A$$x1552-4825
000102237 8564_ $$s161510$$uhttps://zaguan.unizar.es/record/102237/files/texto_completo.pdf$$yPostprint
000102237 8564_ $$s1036192$$uhttps://zaguan.unizar.es/record/102237/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000102237 909CO $$ooai:zaguan.unizar.es:102237$$particulos$$pdriver
000102237 951__ $$a2023-07-06-12:20:38
000102237 980__ $$aARTICLE