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

Willy Chertman, Himanshu Arora, Anthony Griswold, Diana M. Lopategui, Ranjith Ramasamy

Research output: Contribution to journal › Article

Abstract

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.

Original languageEnglish (US)
JournalUrology
DOIs
StatePublished - Jan 1 2019

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Exome
Oligospermia
Varicocele
Nonsense Codon
Siblings
Semen
Mothers
X Chromosome
Spermatogenesis
Fathers
Infertility
Genes

ASJC Scopus subject areas

  • Urology

Cite this

Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele. / Chertman, Willy; Arora, Himanshu; Griswold, Anthony; Lopategui, Diana M.; Ramasamy, Ranjith.

In: Urology, 01.01.2019.

Research output: Contribution to journal › Article

Chertman, W, Arora, H, Griswold, A, Lopategui, DM & Ramasamy, R 2019, 'Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele', Urology. https://doi.org/10.1016/j.urology.2019.03.016
Chertman W, Arora H, Griswold A, Lopategui DM, Ramasamy R. Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele. Urology. 2019 Jan 1. https://doi.org/10.1016/j.urology.2019.03.016
Chertman, Willy ; Arora, Himanshu ; Griswold, Anthony ; Lopategui, Diana M. ; Ramasamy, Ranjith. / Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele. In: Urology. 2019.
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