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Title

mRNA 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

AuthorsPuisac, Beatriz; Gómez-Puertas, Paulino ; Pié, Juan
KeywordsCornelia de Lange syndrome
NIPBL pathological variant
Splicing variants
mRNA
Adult tissues
Fetal tissues
NIPBL isoform A
NIPBL isoform B
Issue Date23-Feb-2017
PublisherMolecular Diversity Preservation International
CitationInternational Journal of Molecular Sciences 18 (2017)
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.
URIhttp://hdl.handle.net/10261/166239
Identifiersdoi: 10.3390/ijms18030481
issn: 1422-0067
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