The true panel of cystic fibrosis mutations in the Sicilian population

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

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.

MeSH terms

  • Alleles
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genetics, Population*
  • Genotype
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Male
  • Mutation / genetics
  • Sequence Analysis, DNA
  • Sicily / epidemiology

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator