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. 2020 May 1;21(1):89.
doi: 10.1186/s12881-020-0958-9.

The true panel of cystic fibrosis mutations in the Sicilian population

Sandrine Chamayou  1 , Maria Sicali  2 , Debora Lombardo  2 , Elena Maglia  2 , Annalisa Liprino  2 , Clementina Cardea  2 , Michele Fichera  3 , Ermanno Venti  2 , Antonino Guglielmino  2
Affiliations

The true panel of cystic fibrosis mutations in the Sicilian population

Sandrine Chamayou et al. BMC Med Genet. .

Abstract

Background: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

Methods: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood.

Results: One patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission.

Conclusions: The risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

Keywords: CFTR; Cystic fibrosis; Next generation sequencing; Screening; Sicily.

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Conflict of interest statement

The authors declare that they have no competing interests.

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