Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Diana, A., Polizzi, A. M., Santostasi, T., Ratclif, L., Pantaleo, M. G., Leonetti, G. et al. The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies. J. Hum. Genet. 61, 473–481 (2016).
Lucarelli, M., Pierandrei, S., Bruno, S. M. & Strom, R. in: Cystic Fibrosis - Renewed Hopes Through Research 91−122 (Intech, Rijeka, Croatia, 2012).
El-Seedy, A., Girodon, E., Norez, C., Pajaud, J., Pasquet, M. C., de Becdelièvre, A. et al. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. Hum. Mutat. 33, 1557–1565 (2012).
Farhat, R., Puissesseau, G., El-Seedy, A., Pasquet, M. C., Adolphe, C., Corbani, S. et al. N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing. Biomed. Res. Int. 2015, 138103 (2015).
Farhat, R., El-Seedy, A., El-Moussaoui, K., Pasquet, M. C., Adolphe, C., Bieth, E. et al. Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations. Biochem. Cell Biol. 93, 28–37 (2015).
Masvidal, L., Igreja, S., Ramos, M. D., Alvarez, A., de Gracia, J., Ramalho, A. et al. Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis. Eur. J. Hum. Genet. 22, 784–791 (2014).
Polizzi, A., Tesse, R., Santostasi, T., Diana, A., Manca, A., Logrillo, V. P. et al. Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele. Genet. Mol. Biol. 34, 416–420 (2011).
Sorio, C., Angiari, C., Johansson, J., Verze, G., Ettorre, M., Buffelli, M. et al. Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation. J. Cyst. Fibros. 12, 821–825 (2013).
Lucarelli, M., Narzi, L., Pierandrei, S., Bruno, S. M., Stamato, A., d’Avanzo, M. et al. A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation. Genet. Med. 12, 548–555 (2010).
Lucarelli, M., Bruno, S. M., Pierandrei, S., Ferraguti, G., Stamato, A., Narzi, F. et al. A genotypic-oriented view of CFTR genetics highlights specific mutational patterns underlying clinical macrocategories of cystic fibrosis. Mol. Med. 21, 257–275 (2015).
Wainwright, C. E., Elborn, J. S., Ramsey, B. W., Marigowda, G., Huang, X., Cipolli, M. et al. Lumacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N. Engl. J. Med. 373, 220–231 (2015).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The author declares no conflict of interest.
Rights and permissions
About this article
Cite this article
Lucarelli, M. A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies. J Hum Genet 61, 471–472 (2016). https://doi.org/10.1038/jhg.2016.34
Published:
Issue date:
DOI: https://doi.org/10.1038/jhg.2016.34
