Mutations in the CFTR gene underlie other non-classical forms of CF such as chronic bronchopulmonary disease, sinusitis, nasal polyps, hepatic syndromes and pancreatitis. They are also responsible for the development of congenital bilateral or unilateral absence of spermatic cord (cbavd). This condition is the cause of reproductive failure in about 6% of men diagnosed with azoospermia and about 1-2% of all cases of male infertility.
The study allows for the sequencing of the entire sequence encoding the CFTR gene, along with the adjacent exons of the intron sequences, which significantly increases the chances of detecting pathogenic variants of the CFTR gene in the general population.
Ballston Spa, New York, USA
Rita’s (pwcf) daughter Samantha (nocf; born 1999)