Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Asian Journal of Andrology
Rossella GiulianiLiborio Stuppia

Abstract

Congenital bilateral absence of vas deferens (CBAVD) is a manifestation of the mildest form of cystic fibrosis (CF) and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulator (CFTR) gene, responsible for CF, to their offspring. The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier. However, in the majority of CBAVD patients, conventional mutation screening is not able to detect mutations in both CFTR alleles, and this difficulty hampers the execution of correct genetic counselling. To obtain information about the most represented CFTR mutations in CBAVD patients, we analysed 23 CBAVD patients, 15 of whom had a single CFTR mutation after screening for 36 mutations and the 5T allele. The search for the second CFTR mutation in these cases was performed by using a triplex approach: (i) first, a reverse dot-blot analysis was performed to detect mutations with reg...Continue Reading

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Citations

Jun 20, 2012·Human Reproduction Update·Hui ChenHsiao Chang Chan
Jun 26, 2012·Current Opinion in Obstetrics & Gynecology·Peter J Stahl, Peter N Schlegel
Jan 25, 2014·Journal of Endocrinological Investigation·P AseroS La Vignera
Aug 10, 2016·Current Urology Reports·Filipe Tenorio Lira NetoMarc Goldstein
Mar 6, 2018·BMC Medical Genomics·Maxim IvanovKamil Khafizov
Jun 11, 2019·Molecular Reproduction and Development·Ke HuMeng Liang
Dec 20, 2019·Expert Review of Molecular Diagnostics·Alberto Ferlin, Liborio Stuppia
Dec 24, 2020·Best Practice & Research. Clinical Endocrinology & Metabolism·Rachel WongPremal Patel
Jun 8, 2021·Molecular Biology Reports·Maria MarkantoniZissis Mamuris

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