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dc.contributor.authorPuisac, Beatriz-
dc.contributor.authorGómez-Puertas, Paulino-
dc.contributor.authorPié, Juan-
dc.identifierdoi: 10.3390/ijms18030481-
dc.identifierissn: 1422-0067-
dc.identifier.citationInternational Journal of Molecular Sciences 18 (2017)-
dc.description.abstractCornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3¿ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers.-
dc.description.sponsorshipThe Spanish Ministry of Health—Fondo de Investigación Sanitaria (FIS) (Ref: PI15/00707); the Diputación General de Aragón (Grupo Consolidado B20), European Social Fund (“Construyendo Europa desde Aragón”) CHROMATIN-Net funded by the German Federal Ministry of Education and Research (BMBF) to Frank J. Kaiser. The Spanish Ministry of Economy (Refs: IPT2011-0964-900000 and SAF2011-13156-E)-
dc.publisherMolecular Diversity Preservation International-
dc.relation.isversionofPublisher's version-
dc.subjectCornelia de Lange syndrome-
dc.subjectNIPBL pathological variant-
dc.subjectSplicing variants-
dc.subjectAdult tissues-
dc.subjectFetal tissues-
dc.subjectNIPBL isoform A-
dc.subjectNIPBL isoform B-
dc.titlemRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform a in two patients with Cornelia de Lange syndrome-
dc.description.versionPeer Reviewed-
dc.contributor.funderDiputación General de Aragón-
dc.contributor.funderFederal Ministry of Education and Research (Germany)-
dc.contributor.funderMinisterio de Economía y Competitividad (España)-
dc.contributor.funderMinisterio de Sanidad, Servicios Sociales e Igualdad (España)-
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