Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

doi:10.1007/s00439-021-02287-y

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Article

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

Human genetics - 1 Aug 2021

Hardy Jimmaline J, Wyrwoll Margot J, Mcfadden William, Malcher Agnieszka, Rotte Nadja, Pollock Nijole C, Munyoki Sarah, Veroli Maria V, Houston Brendan J, Xavier Miguel J, Kasak Laura, Punab Margus, Laan Maris, Kliesch Sabine, Schlegel Peter, Jaffe Thomas, Hwang Kathleen, Vukina Josip, Brieño-Enríquez Miguel A, Orwig Kyle, Yanowitz Judith, Buszczak Michael, Veltman Joris A, Oud Manon, Nagirnaja Liina, Olszewska Marta, O'Bryan Moira K, Conrad Donald F, Kurpisz Maciej, Tüttelmann Frank, Yatsenko Alexander N

Abstract excerpt

Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic failure (SPGF). Our initial analysis (n = 176) did not reveal known gene-candidates but identified a potentially significant single-nucleotide variant (SNV) in X-linked...

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Identifiers

PMID: 33963445
DOI: 10.1007/s00439-021-02287-y
PMCID: PMC8266742

Genes

GCNA

Variants

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