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Title: A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism
Author: Fernández-Rodríguez, Juana
Castellsagué, Joan
Benito-Aracil, Llúcia
Benavente, Yolanda
Capellá, G. (Gabriel)
Blanco Guillermo, Ignacio
Serra Arenas, Eduard
Lázaro García, Conxi
Keywords: Neurofibromatosi
Issue Date: Jul-2011
Publisher: Wiley
Abstract: Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism. Furthermore, the construction of a minigene with patient's mutation (c.3198 − 314G>A) confirmed its benign nature due to the leakiness of the splicing mechanism that generated a proportion of correctly spliced transcripts. Hence, we concluded that the mild phenotype observed in this patient is the result of the presence of mosaicism together with the benign nature of a leaky NF1-splice mutation. Finally, with the aim of developing a personalized therapeutic approach for this patient, we demonstrated correction of the splicing defect by using specific antisense morpholino oligomers. Our results provide an example of the molecular complexity behind disease phenotypes and highlight the importance of using comprehensive genetic approaches to better assess phenotype-genotype correlations
Note: Versió preprint del document publicat a:
It is part of: Human Mutation, 2011, vol. 32, num. 7, p. 705-709
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ISSN: 1059-7794
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Infermeria Fonamental i Medicoquirúrgica)

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