2026-04-17T05:59:28Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/533492025-11-19T10:56:36Zcom_2072_1057col_2072_478861col_2072_478916col_2072_478917col_2072_478929

00925njm 22002777a 4500 dc Fernández Rodríguez, Juana author Castellsagué, Joan author Benito-Aracil, Llúcia author Benavente, Yolanda author Capellá, G. (Gabriel) author Blanco Guillermo, Ignacio author Serra Arenas, Eduard author Lázaro García, Conxi author 2014-04-08T11:26:41Z 2014-04-08T11:26:41Z 2011-07 2014-04-08T11:26:41Z 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 Neurofibromatosi Fenotip Neurofibromatosis Phenotype 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