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 [documento electrónico] / Carolina Baquero Montoya,  . - 2017 . -  ; PDF.
Obra : International Journal of Molecular Sciences

Idioma : Inglés (eng)

Palabras clave :	Cornelia de Lange syndrome  NIPBL isoform A  NIPBL isoform B  NIPBL pathological variant  adult tissues  fetal tissues  mRNA  splicing variants
Resumen :	Cornelia 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.
Mención de responsabilidad :	Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos, Lena Ström, Juan Pié
Referencia :	Int J Mol Sci. 2017 Feb 23;18(3). pii: E481
DOI (Digital Object Identifier) :	10.3390/ijms18030481
PMID :	28241484
Derechos de uso :	CC BY
En línea :	https://www.mdpi.com/1422-0067/18/3/481
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