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Updated: Jul 17, 2026
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation
Edward Karpman1, Daniel H Williams, Sidney Wilberforce
1Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA. ekarpman@hotmail.com <ekarpman@hotmail.com>
Objective:
To determine the prevalence of compound genetic abnormalities in patients who are carriers of cystic fibrosis mutations.
Design:
Case report.
Setting:
Tertiary referral center for male infertility.
Patient(S):
Between 2000 and 2005, 65 patients were identified to be carriers of cystic fibrosis transmembrane regulator gene (CFTR) mutations or have a polymorphism of the polythymidine tract of intron 8.
Intervention(S):
Patients were evaluated for male factor infertility. Additional genetic testing for karyotype abnormalities or Y chromosome microdeletions was performed when indicated because of evidence of impaired spermatogenesis during surgical sperm retrieval or on semen analysis. A comparison of similar patients is in the published literature.
Main Outcome Measure(S):
Characteristics of patients with compound genetic abnormalities presenting to an academic male fertility practice. Comparison to similar patients reported in the literature.
Result(S):
Two patients (3.1%) out of 65 were identified in our database to have compound genetic abnormalities. One patient had a W1282X mutation while the other had an I148T mutation. Both patients had deletions of AZF b + c regions. There were no karyotype abnormalities identified in our database. An additional two patients with compound CFTR mutations and Y chromosome microdeletions were identified in the literature. Three patients in the literature had compound CFTR mutations and karyotype abnormalities.
Conclusion:
Compound genetic abnormalities in CFTR mutation patients can be a contributing factor when abnormal spermatogenesis is encountered. A secondary genetic etiology should be considered in these types of patients.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life