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http://hdl.handle.net/2445/186215
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DC Field | Value | Language |
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dc.contributor.author | López Rodrigo, Olga | - |
dc.contributor.author | Bossini Castillo, Lara | - |
dc.contributor.author | Carmona, F. David | - |
dc.contributor.author | Bassas, Lluís | - |
dc.contributor.author | Larriba, Sara | - |
dc.date.accessioned | 2022-06-01T14:06:36Z | - |
dc.date.available | 2023-04-09T05:10:21Z | - |
dc.date.issued | 2022-04-09 | - |
dc.identifier.issn | 1472-6491 | - |
dc.identifier.uri | http://hdl.handle.net/2445/186215 | - |
dc.description.abstract | Research question: Would the use of genome-wide genotyping be an advantageous strategy to identify the molecular aetiology of two brothers from a non-consanguineous family, clinically diagnosed with total globozoospermia? Design: Two related Spanish globozoospermic patients were studied. Eight first- and second-degree family members were also included in the study. The clinical procedure included anamnesis, physical examination and semen analyses. Acrosome visualization was performed by fluorescein isothiocyanate-Pisum sativum agglutinin labelling and ultrastructural electron microscope sperm analysis. Sperm DNA fragmentation was determined by TUNEL and SCD. Molecular analysis included: the detection of deletion of the DPY19L2 gene by a BPa (break point "a") gap-polymerase chain reaction, and genotyping by using a high-throughput genome-wide genotyping platform and a genotype imputation strategy. Results: The biological characteristics of the two globozoospermic siblings included round-headed spermatozoa without an acrosome; ultrastructural defects in spermatozoa; increased sperm fragmentation and aneuploidies, inability of spermatozoa to activate oocytes (correctable with artificial activation) and good developmental potential of embryos generated by IVF/intracytoplasmic sperm injection. This genetic study focused on a genome-wide compound heterozygote analysis that identified two deleterious rare coding variants in the DPY19L2 gene [rs771726551 (c.431T>A exon 3) and rs147579680 (c.869G>A exon 8)]. Conclusion: A genome-wide compound heterozygote analysis strategy should be considered for molecular screening in globozoospermia and other rare congenital diseases, particularly in cases from non-consanguineous families. | ca |
dc.format.extent | 22 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | ca |
dc.publisher | Elsevier | ca |
dc.relation.isformatof | Postprint del document publicat a: https://doi.org/10.1016/j.rbmo.2022.03.035 | - |
dc.relation.ispartof | Reproductive BioMedicine Online, 2022 | - |
dc.relation.uri | https://doi.org/10.1016/j.rbmo.2022.03.035 | - |
dc.rights | cc by-nc-nd (c) Elsevier, 2022 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Esterilitat masculina | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Male sterility | - |
dc.subject.other | Genetics | - |
dc.title | Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with a complete form of globozoospermia | ca |
dc.type | info:eu-repo/semantics/article | ca |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2022-06-01T11:03:59Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 35610156 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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modSL_RBMO21-00976.pdf | 567.07 kB | Adobe PDF | View/Open |
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