ArticleAsian journal of andrology2023
A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility.
Article in Asian journal of andrology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study.International journal of reproductive biomedicine · 2026Article
- TEX29 is a novel acrosome marker dispensable for spermatogenesis and fertilization in mice.Journal of assisted reproduction and genetics · 2026Article
- Biallelic variants in TBC1D8 are potentially associated with male infertility due to non-obstructive azoospermia or cryptozoospermia.Asian journal of andrology · 2026Article
- Sperm abnormality: Differential expression of microRNAs.Journal of assisted reproduction and genetics · 2025Review
- Novel mutations in ZMYND15 are associated with male infertility with oligozoospermia/azoospermia.Journal of assisted reproduction and genetics · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- The role of homozygous LOF variant of the PNLDC1 gene in oligo-astheno-teratozoospermia (OAT) and male infertility.Asian journal of andrology · 2023Article
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6 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Male infertility is a major reproductive disorder, which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality. To date, five male patients with biallelic loss-of-function (LOF) variants of PARN-like ribonuclease domain-containing exonuclease 1 ( PNLDC1 ) have been reported to experience infertility with nonobstructive azoospermia. The aim of this study was to identify the genetic cause of male infertility with oligo-astheno-teratozoospermia (OAT) in a patient from a Chinese Han family. Whole-exome and Sanger sequencing analyses identified a homozygous LOF variant (NM_173516.2, c.142C>T, p.Gln48Ter) in PNLDC1 . Hematoxylin and eosin staining revealed that the spermatozoa of the patient with OAT had an irregular head phenotype, including microcephaly, head tapering, and globozoospermia. Consistently, peanut agglutinin staining of the spermatozoa revealed a complete or partial loss of the acrosome. Furthermore, the disomy rate of chromosomes in the patient's spermatozoa was significantly increased compared with that of a fertile control sample. We reported an LOF variant of the PNLDC1 gene responsible for OAT.
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