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Cited by 45Sperm and Testicular FunctionGenomics and Rare DiseasesReproductive Biology and Fertility

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility

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Cao, Yun-Xia, Li, Wei, Shang, Yong-Liang, Zhu, Fu-Xi, Yan, Jie, Chen, Liang, Tang, Wen-Hao, Xiao, Sai +4 more·2019·Asian Journal of Andrology
DOI 10.4103/aja.aja_79_18PMC PMC6413555
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Abstract

Globozoospermia has been reported to be a rare but severe causation of male infertility, which results from the failure of acrosome biogenesis and sperm head shaping. Variants of dpy-19-like 2 (DPY19L2) are highly related to globozoospermia, but related investigations have been mainly performed in patients from Western countries. Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations, as revealed by whole-exome sequencing. Patient 3 (P3) contained a heterozygous variant (c.2126+5G>A), P6 contained a homozygous nonsense mutation (c.1720C>T, p.Arg574*), P8 contained compound heterozygous variants (c.1182-1184delATC, p.Leu394_Ser395delinsPhe; c.368A>T, p.His123Arg), and P9 contained a heterozygous variant (c.1182-1184delATCTT, frameshift). We also reported intracytoplasmic sperm injection (ICSI) outcomes in the related patients, finding that ICSI followed by assisted oocyte activation (AOA) with calcium ionophore achieved high rates of live births. In summary, the infertility of these patients results from DPY19L2 dysfunction and can be treated by ICSI together with AOA.

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Authors
Cao, Y.-X., Li, W., Shang, Y.-L., Zhu, F.-X., Yan, J., Chen, L., Tang, W.-H., Xiao, S., Mo, W.-K., Zhang, Z.-G., He, X.-J., & Qiao, J.
Affiliations
  • Chinese Academy of Sciences (CN)
  • Peking University Third Hospital (CN)
  • Peking University First Hospital (CN)
ORCID
Venue
Asian Journal of Andrology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2019
Volume
21
Issue
2
Pages
183
ISSN
1008-682X (ISSN-L)
DOI
10.4103/aja.aja_79_18
PMC
PMC6413555
OpenAlex
W2896273782
Cited by
45
References
1
Citations by year
2026: 3 · 2025: 8 · 2024: 6 · 2023: 5 · 2022: 9 · 2021: 6 · 2020: 4 · 2019: 2 · 2014: 1
FWCI
3.21
Type
journal article
Language
en
Open access
Licence
cc-by-nc-sa
Locations
  • Asian Journal of Andrology (publishedVersion, cc-by-nc-sa)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
  • PubMed Central (publishedVersion, cc-by-nc-sa)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
Keywords
globozoospermia, DPY19L2, male infertility, acrosome biogenesis, novel point mutation, compound heterozygosity, intracytoplasmic sperm injection, assisted oocyte activation, calcium ionophore, Chinese patients
MeSH terms
Teratozoospermia, Exome Sequencing, Acrosome, Adult, China, Female, Humans, Male, Membrane Proteins, Pregnancy, Pregnancy Outcome, Sperm Head, Point Mutation, Sequence Deletion, Codon, Nonsense, Pregnancy Rate, Sperm Injections, Intracytoplasmic

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