Article
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
American journal of human genetics - 6 Aug 2020
Wyrwoll Margot J, Temel Şehime G, Nagirnaja Liina, Oud Manon S, Lopes Alexandra M, van der Heijden Godfried W, Heald James S, Rotte Nadja, Wistuba Joachim, Wöste Marius, Ledig Susanne, Krenz Henrike, Smits Roos M, Carvalho Filipa, Gonçalves João, Fietz Daniela, Türkgenç Burcu, Ergören Mahmut C, Çetinkaya Murat, Başar Murad, Kahraman Semra, McEleny Kevin, Xavier Miguel J, Turner Helen, Pilatz Adrian, Röpke Albrecht, Dugas Martin, Kliesch Sabine, Neuhaus Nina, Aston Kenneth I, Conrad Donald F, Veltman Joris A, Friedrich Corinna, Tüttelmann Frank
Abstract excerpt
Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis. So far, only a few validated disease-associated genes have been reported. To address this gap, we performed whole-exome sequencing in 58 men with unexplained meiotic arrest and identified the same homozygous frameshift variant...
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