Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome [documento electrónico] / Carolina Baquero Montoya,  . - 2014.
Obra : International Journal of Molecular Sciences

Idioma : Inglés (eng)

Palabras clave :	CdLS  NIPBL  splicing mutations  physiological splicing
Resumen :	Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame.
Mención de responsabilidad :	María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H Casale, Feliciano J Ramos, Gabriele Gillessen-Kaesbach, Frank J Kaiser, Juan Pié
Referencia :	Int J Mol Sci. 2014 Jun 10;15(6):10350-64.
DOI (Digital Object Identifier) :	10.3390/ijms150610350
PMID :	24918291
Derechos de uso :	CC BY
En línea :	https://www.mdpi.com/1422-0067/15/6/10350
Enlace permanente :	https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3782