Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late- Onset Cystic Fibrosis Disease with Chronic Pancreatitis Anna C. Tomaiuolo,

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Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late- Onset Cystic Fibrosis Disease with Chronic Pancreatitis Anna C. Tomaiuolo, Valentina M. Sofia, Cecilia Surace, Fabio Majo, Silvia Genovese, Stefano Petrocchi, Simona Grotta, Federico Alghisi, Vincenzina Lucidi, Adriano Angioni The Journal of Molecular Diagnostics Volume 17, Issue 2, Pages 171-178 (March 2015) DOI: 10.1016/j.jmoldx.2014.11.007 Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 cDNA of the CFTR investigated fragments in the patient. Agarose gel electrophoresis (1.5%) of amplified cDNA fragment spanning IVS2 to IVS3 using IVS2 forward 5′-GTTTTTTAGAAGCCCAACACTTTTCTT-3′ and IVS3 reverse 5′-TCAGAGTCACATTGGACAGCAACT-3′ primers, showing a single band of 1119 bp in the healthy control (N) and two bands of 1010 and 1119 bp in the proband (P). M, marker; NC, negative control. The Journal of Molecular Diagnostics 2015 17, 171-178DOI: (10.1016/j.jmoldx.2014.11.007) Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 The patient's CFTR gene relevant fragment. A: CFTR genomic DNA region spanning exons 2 to 4. B: cDNA of the same region after the exon 3 skipping. The nucleotide sequences of exons 2 and 4 are reported in blue and gray, respectively. C: Electropherogram of patient's DNA showing the exon 3 skipping with the juxtaposition of the exons 2 and 4 and the patient's amino acid residues of exons 2 and 4. The Journal of Molecular Diagnostics 2015 17, 171-178DOI: (10.1016/j.jmoldx.2014.11.007) Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Segregation of the CFTR mutations and CTRC variation in the family members of the patient. A: Electropherograms illustrating the V235I variation in the CTRC. B: Pedigree of the studied family. Wt, wild type. The Journal of Molecular Diagnostics 2015 17, 171-178DOI: (10.1016/j.jmoldx.2014.11.007) Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions