prikaz prve stranice dokumenta FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma
  Download
PDF 1.65 MB
Scientific paper - Case study
FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma
Genes, 15 (2024), 6; 707. https://doi.org/10.3390/genes15060707
Logara Klarić, Monika; Marić, Tihana; Žunić, Lucija; Trgovec-Greif, Lovro; Rokić, Filip; Fiolić, Ana; Merkler Šorgić, Ana; Ježek, Davor; Vugrek, Oliver; Jakovčević, Antonia; Barbalić, Maja; Belužić, Robert; Katušić Bojanac, Ana

Cite this document

Logara Klarić, M., Marić, T., Žunić, L., Trgovec Greif, L., Rokić, F., Fiolić, A. ... Katušić Bojanac, A. (2024). FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma. Genes, 15. (6). doi: 10.3390/genes15060707

Logara Klarić, Monika, et al. "FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma." Genes, vol. 15, no. 6, 2024. https://doi.org/10.3390/genes15060707

Logara Klarić, Monika, Tihana Marić, Lucija Žunić, Lovro Trgovec Greif, Filip Rokić, Ana Fiolić, Ana Merkler Šorgić, et al. "FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma." Genes 15, no. 6 (2024). https://doi.org/10.3390/genes15060707

Logara Klarić, M., et al. (2024) 'FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma', Genes, 15(6). doi: 10.3390/genes15060707

Logara Klarić M, Marić T, Žunić L, Trgovec Greif L, Rokić F, Fiolić A, and sur.. FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma. Genes [Internet]. 2024 May 28 [cited 2025 February 25];15(6). doi: 10.3390/genes15060707

M. Logara Klarić, et al., "FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma", Genes, vol. 15, no. 6, May 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:741230. [Accessed: 25 February 2025]

Please login to the repository to save this object to your list.
Metadata
Title (english)FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma
AuthorMonika Logara Klarić
AuthorTihana Marić
AuthorLucija Žunić
AuthorLovro Trgovec-Greif
AuthorFilip Rokić
AuthorAna Fiolić
AuthorAna Merkler Šorgić
AuthorDavor Ježek
AuthorOliver Vugrek
AuthorAntonia Jakovčević
AuthorMaja Barbalić
AuthorRobert Belužić
AuthorAna Katušić Bojanac
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Histology and Embryology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Medical Biology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Cytology, Histology and Embryology
Abstract (english)
Azoospermia is a form of male infertility characterized by a complete lack of spermatozoa in the ejaculate. Sertoli cell-only syndrome (SCOS) is the most severe form of azoospermia, where no germ cells are found in the tubules. Recently, FANCM gene variants were reported as novel genetic causes of spermatogenic failure. At the same time, FANCM variants are known to be associated with cancer predisposition. We performed whole-exome sequencing on a male patient diagnosed with SCOS and a healthy father. Two compound heterozygous missense mutations in the FANCM gene were found in the patient, both being inherited from his parents. After the infertility assessment, the patient was diagnosed with diffuse astrocytoma. Immunohistochemical analyses in the testicular and tumor tissues of the patient and adequate controls showed, for the first time, not only the existence of a cytoplasmic and not nuclear pattern of FANCM in astrocytoma but also in non-mitotic neurons. In the testicular tissue of the SCOS patient, cytoplasmic anti-FANCM staining intensity appeared lower than in the control. Our case report raises a novel possibility that the infertile carriers of FANCM gene missense variants could also be prone to cancer development.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleGenes
Numberingvol. 15, no. 6, 707
e-ISSN2073-4425
DOIhttps://doi.org/10.3390/genes15060707
URN:NBNurn:nbn:hr:105:741230
Publication2024-05-28
Document URLhttps://www.mdpi.com/2073-4425/15/6/707
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2025-01-20 09:58:04