• PMID: 30922974
• Gene Name: FAM47C
• Condition: Oligospermia with varicocele
• Association: Associated
• Mutation: 37028866 CT
• Population size: 5
• Population details: 5 (2 cases, 3 controls)
• Sex: Male
• Infertility type: Male infertility

Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele

Chertman W, Arora H, Griswold AJ, Lopategui DM, Ramasamy R.

Varicocele is a common cause of impaired semen parameters in men with infertility. Here, we investigated genetic variants as possible causes of varicocele with impaired semen parameters using whole exome sequencing in a family with 2 brothers with severe oligospermia, 1 unaffected brother, father, and the mother. Results showed a premature stop codon alteration on Chromosome X (37028866 CT) in the gene FAM47C. The affected brothers were found to be hemizygous for the variant, while the mother was a heterozygous carrier. In conclusion, identifying men with varicocele that would have impaired spermatogenesis, using approaches like whole-exome sequencing, can be paradigm shifting. CI - Copyright © 2019 Elsevier Inc. All rights reserved. FAU - Chertman, Willy AU - Chertman W AD - Department of Urology, University of Miami Miller School of Medicine, Miami, FL. FAU - Arora, Himanshu AU - Arora H AD - Department of Urology, University of Miami Miller School of Medicine, Miami, FL. FAU - Griswold, Anthony J AU - Griswold AJ AD - John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL. FAU - Lopategui, Diana M AU - Lopategui DM AD - Department of Urology, University of Miami Miller School of Medicine, Miami, FL.