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Susana Igreja, Luka A Clarke, Hugo M Botelho, Luís Marques, Margarida D Amaral
Cystic fibrosis (CF), the most common life-threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations in the CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre-mRNA splicing for which novel therapies have been somewhat neglected. We have previously described the effect of the CFTR splicing mutation c.2657+5G>A in IVS16, showing that it originates transcripts lacking exon 16 as well as wild-type transcripts. Here, we tested an RNA-based antisense oligonucleotide (AON) strategy to correct the aberrant splicing caused by this mutation...
February 2016: Human Mutation
Neeraj Sharma, Patrick R Sosnay, Anabela S Ramalho, Christopher Douville, Arianna Franca, Laura B Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S Raraigh, Margarida D Amaral, Rachel Karchin, Garry R Cutting
Assessment of the functional consequences of variants near splice sites is a major challenge in the diagnostic laboratory. To address this issue, we created expression minigenes (EMGs) to determine the RNA and protein products generated by splice site variants (n = 10) implicated in cystic fibrosis (CF). Experimental results were compared with the splicing predictions of eight in silico tools. EMGs containing the full-length Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) coding sequence and flanking intron sequences generated wild-type transcript and fully processed protein in Human Embryonic Kidney (HEK293) and CF bronchial epithelial (CFBE41o-) cells...
October 2014: Human Mutation
Laia Masvidal, Susana Igreja, Maria D Ramos, Antoni Alvarez, Javier de Gracia, Anabela Ramalho, Margarida D Amaral, Sara Larriba, Teresa Casals
The major purpose of the present study was to quantify correctly spliced CFTR transcripts in human nasal epithelial cells from cystic fibrosis (CF) patients carrying the splicing mutations c.580-1G>T (712-1G>T) and c.2657+5G>A (2789+5G>A) and to assess the applicability of this model in CFTR therapeutic approaches. We performed the relative quantification of CFTR mRNA by reverse transcription quantitative PCR (RT-qPCR) of these splicing mutations in four groups (wild type, CF-F508del controls, CF patients and CF carriers) of individuals...
June 2014: European Journal of Human Genetics: EJHG
Karen M Schwartz, Lisa L Pike-Buchanan, Kasinathan Muralidharan, Joy B Redman, Jean Amos Wilson, Michael Jarvis, M Grace Cura, Victoria M Pratt
The purpose of this work is to define rare variants of cystic fibrosis (CF) that are potential sources of error and can confound molecular genetic testing methods. We performed routine, clinical CF mutation screening using a laboratory-developed test and the oligonucleotide ligation assay reagents from Abbott/Celera. In this report, we describe 11 unique allele drop outs [3849 + 10kb C>T (NM_000492.2:c.3718-2477C>T), V520F (c.1558G>T), 1078delT (c.948delT), A455E (c.1364C>A), R347P (c.1040G>C), 2184delA (c...
May 2009: Journal of Molecular Diagnostics: JMD
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