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Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint
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Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint
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Journal Article
Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint
2018
Overview
[3] A study on 18 individual cases found that 11 patients (61.1%) had a homozygous deletion of a 200-kb fragment of the DPY19L gene, two (11.1%) had a homozygous nonsynonymous mutation in exon 8 (p.R298C), one (5.6%) had a homozygous new splice site mutation at the junction of exon-intron 16 (c.1579_1580 + 4delAGGTAAinsTCAT), and four (22.2%) had no mutations in DPY19L2, SPATA16, or PICK1. Studies have indicated that the product of the DPY19L2 gene stabilizes acrosomes, allows the anchoring of the acroplaxome to the nuclear membrane, and mediates the formation of normal sperm morphology, eventually promoting sperm head elongation and acrosome formation. Author Contributions LKZ, ZYJ, and RHT collected and provided all the clinic information; YWS wrote the manuscript; LBM, QZ, and LD carried out all the related examinations; PL designed the study, supervised the data collection and examinations, and reviewed the paper.
Publisher
Wolters Kluwer India Pvt. Ltd,Medknow Publications and Media Pvt. Ltd,Medknow Publications & Media Pvt. Ltd,Medknow Publications & Media Pvt Ltd,Wolters Kluwer Medknow Publications
Subject
