A large deletion in the CFTR gene in CBAVD.
OBJECTIVE
Most cystic fibrosis mutation screening methods do not detect large exon deletions or duplications in the cystic fibrosis transmembrane regulator gene. We looked for such mutations in congenital bilateral absence of the vas deferens patients in whom routine screening assays had identified only one or no cystic fibrosis transmembrane regulator gene mutations.


METHODS
DNA samples from 48 men with congenital bilateral absence of the vas deferens were tested for exonic deletions and duplications in the cystic fibrosis transmembrane regulator gene using a laboratory-developed semiquantitative fluorescent PCR assay.


RESULTS
Semi-quantitative fluorescent PCR identified a large deletion in one (2%) of the 48 patients. This patient, previously characterized as carrying only the IVS8-5T mutation, was found to have a deletion of exons 22-24 of the cystic fibrosis transmembrane regulator gene. In a second patient with the IVS8-5T mutation, we identified a one-base pair insertion in exon 17b that disrupted the reading frame.


CONCLUSIONS
Analysis of the cystic fibrosis transmembrane regulator gene for exon deletions and duplications should be included for complete study of CBAVD patients, especially those considering assisted reproduction.
Department of Molecualr Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA.
Feras M
FM
Hantash
Aubrey
A
Milunsky
Zhenyuan
Z
Wang
Ben
B
Anderson
Weimin
W
Sun
Arturo
A
Anguiano
Charles M
CM
Strom
D015331:Cohort Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D014649:Vas Deferens / Q000002:abnormalities*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator