PD52-01 CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR (CFTR) GENE SEQUENCING IDENTIFIES DIFFERENT MUTATIONS WHEN COMPARED WITH ROUTINE MUTATION SCREENING IN AZOOSPERMIC MEN

Abstract

You have accessJournal of UrologyInfertility: Evaluation1 Apr 2015PD52-01 CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR (CFTR) GENE SEQUENCING IDENTIFIES DIFFERENT MUTATIONS WHEN COMPARED WITH ROUTINE MUTATION SCREENING IN AZOOSPERMIC MEN Alexander W. Pastuszak, Evan P. Wenker, Tariq S. Hakky, Aravind Chandrashekar, Ranjith Ramasamy, Dolores J. Lamb, and Larry I. Lipshultz Alexander W. PastuszakAlexander W. Pastuszak More articles by this author , Evan P. WenkerEvan P. Wenker More articles by this author , Tariq S. HakkyTariq S. Hakky More articles by this author , Aravind ChandrashekarAravind Chandrashekar More articles by this author , Ranjith RamasamyRanjith Ramasamy More articles by this author , Dolores J. LambDolores J. Lamb More articles by this author , and Larry I. LipshultzLarry I. Lipshultz More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2015.02.1775AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Genetic testing options for patients at risk for cystic fibrosis (CF) include a routine panel screening for common mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, as well as full CFTR sequencing. The routine panel is commonly used, particularly in men of Western European descent who have a 97% detection rate of CFTR mutations based on their ethnicity. Full sequencing has been suggested for patients less likely to have these common mutations. Here we examine CFTR mutations detected using sequencing in comparison to mutation panel testing. METHODS All men undergoing CFTR mutation screening or gene sequencing in a single infertility clinic since 2011 were identified. Type of genetic test, age, ethnicity, presence/absence of vas deferens, and semen analysis results were collected. Mutations identified using screening and sequencing were tabulated and detection rates compared. RESULTS Since 2011, 31 men underwent mutation panel screening, and 17 CFTR gene sequencing. The mean±SD ages of men screened using the mutation panel and sequencing were 35.8±6.0 and 35.0±8.7 years, respectively (p=0.71). Of the men in the mutation panel cohort, 17 were White (54.8%), 2 were Black (6.5%), 1 was Hispanic (3.2%), and 11 (35.5%) were undeclared. In the sequencing group, 7 (41.2%) were White, 3 (17.6%) were Black, 3 (17.6%) were Hispanic, and 4 (23.5%) were undeclared. Vasa deferentia were absent in 10 (32.3%) men undergoing mutation panel screening and 5 (29.4%) in the CFTR sequencing group; all men were azoospermic. CFTR mutations were identified in 5 (16.1%) men using mutation panel screening and 5 (29.4%) using sequencing (p=0.46). Positive mutation panel results were primarily due to 5T variant mutations (80%), with deltaF508 being identified in 1 (20%) man. In contrast, the 5T variant mutation was only present in 1 (20%) of the positive sequencing tests. Other mutations identified using sequencing included p.w1282x in 2 (40%), p.F508 in 1 (20%), p.d993Y in 1 (20%), and p.r117H in 1 (20%). Two (40%) positive sequencing results revealed yielded multiple mutations. CONCLUSIONS CFTR gene sequencing identifies mutations not typically observed on mutation panel screening when applied to an at-risk, ethnically diverse population. Patients of non-Western European descent may benefit from full gene sequencing rather than mutation panel screening. Since CF testing, including sequencing, is covered by most insurance plans, the use of more definitive testing should be considered in all at-risk patients. © 2015 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 193Issue 4SApril 2015Page: e1113 Advertisement Copyright & Permissions© 2015 by American Urological Association Education and Research, Inc.MetricsAuthor Information Alexander W. Pastuszak More articles by this author Evan P. Wenker More articles by this author Tariq S. Hakky More articles by this author Aravind Chandrashekar More articles by this author Ranjith Ramasamy More articles by this author Dolores J. Lamb More articles by this author Larry I. Lipshultz More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...