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A novel nonsense mutation of PNLDC1 associated with male infertility due to oligo-astheno-teratozoospermia in a consanguineous Chinese family

Q. Fang,X. Bi, H. Wei, S. Liu, J. Di, Y. Liu, F. Xu, B. Wang

QJM : monthly journal of the Association of Physicians（2023）

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Abstract
Learning points for clinicians PARN-like ribonuclease domain-containing exonuclease 1 (PNLDC1) forms a trimmer of piRNAs mediating 3'-splicing and plays an important role in meiosis and spermatogenesis. Here, we identified a novel nonsense PNLDC1 variant in a patient with Oligo-astheno-teratozoospermia (OAT) and poor clinical outcomes of intracytoplasmic sperm injection (ICSI) from a consanguineous Chinese family.
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male infertility,novel nonsense mutation,oligo-astheno-teratozoospermia
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