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01.12.2014 | Research article | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

Journal of Medical Case Reports > Ausgabe 1/2014
Domenico Dell’Edera, Michele Benedetto, Gemma Gadaleta, Domenico Carone, Donatello Salvatore, Antonella Angione, Massimiliano Gallo, Michele Milo, Maria Laura Pisaturo, Giuseppe Di Pierro, Eleonora Mazzone, Annunziata Anna Epifania
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-339) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

DD made substantial contributions to conception and design. MB, MM, AA and MG contributed to the acquisition, analysis and interpretation of data. DS, AAE and GG were involved in drafting the manuscript. DC, MLP, GD and EM gave final approval of the version to be published. All authors read and approved the final manuscript.



Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing.


This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013. Patients were referred to our laboratory for cystic fibrosis screening for infertile couples. In addition, we identified the gene mutations present in 76 patients affected by cystic fibrosis in the pediatric population of Basilicata.


In the 964 infertile couples examined, 132 subjects (69 women and 63 men) resulted heterozygous for one of the CFTR mutations, with a recurrence of carriers of 6.85%. The recurrence of carriers in infertile couples is significantly higher from the hypothetical value of the general population (4%).


This study shows that in the Basilicata region of Italy the CFTR phenotype is caused by a small number of mutations.
Our aim is to develop a kit able to detect not less than 96% of CTFR gene mutations so that the relative risk for screened couples is superimposable with respect to the general population.

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