Cystic Fibrosis mutations and infertility – using Next Gen Sequencing to identify infertility related variants

Melinda Richter1, Nicole Martin1, Peter Field1

1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000


Cystic Fibrosis is the most common severe autosomal recessive disease in those individuals with Northern European ancestry.  Cystic Fibrosis is known to be linked with male infertility, with over 95% of CF affected males having Congenital Bilateral absence of the vas deferens (CBAVD).

Using a targeted Next Generation Sequencing (NGS) panel we can detect base changes in codons that are not commonly represented in the traditional genotyping kits and thus give more information to patients seeking infertility treatment.

Mutations such as R117H have been shown to have varying clinical consequence but not classical Cystic Fibrosis in clinical presentation.  However, R117C (caused by a single base change in the same codon as R117H) is a CF mutation that does occur in classic Cystic Fibrosis.  Both of these variants have the potential to be involved in CBAVD.

By utilising NGS we are able to detect more base change variants associated with different ethnic ancestry as well as varying clinical consequence, leading to better treatment pathways for infertility patients.



Molecular Genetics Scientist at QFG Genetics

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