Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

Schneider, M; Hirt, C; Casaulta, C; Barben, J; Spinas, R; Bühlmann, U; Spalinger, J; Schwizer, B; Chevalier-Porst, F; Gallati, S (2007). Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clinical genetics, 72(1), pp. 30-8. Oxford: Wiley-Blackwell 10.1111/j.1399-0004.2007.00820.x

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Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disorder in Caucasians, and is associated with at least one mutation on each CF transmembrane conductance regulator (CFTR) allele. Some patients, however, with only one identifiable point mutation carry on the other allele, a large deletion that is not detected by conventional screening methods. The overall frequency of large deletions in patients with CF is estimated to be 1-3%. Using the CFTR Multiplex Ligation dependent Probe Amplification Kit (MRC-Holland, Amsterdam, Netherlands) that allows the exact detection of copy numbers from all 27 exons in the CFTR gene, we screened 50 patients with only one identified mutation for large deletions in the CFTR gene. Each detected deletion was confirmed using our real-time polymerase chain reaction (PCR) assay and deletion-specific PCR reactions using junction fragment primers. We detected large deletions in eight patients (16%). These eight CF alleles belong to four different deletion types (CFTRindel2, CFTRdele14b-17b, CFTRdele17a-17b and CFTRdele 2-9) whereof the last is novel. Comparing detailed clinical data of all these patients with CF and the molecular genetic findings, we were able to elaborate criteria for deletion screenings and possible genotype-phenotype associations. In conclusion, we agree with other authors that deletion screenings should be implemented in routine genetic diagnostics of CF.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Casaulta Aebischer, Carmen; Spalinger, Johannes and Gallati, Sabina










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Date Deposited:

04 Oct 2013 14:55

Last Modified:

04 May 2014 23:16

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URI: (FactScience: 41709)

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