{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T22:33:05Z","timestamp":1766788385941,"version":"build-2065373602"},"reference-count":63,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T00:00:00Z","timestamp":1716854400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Scientific Center of Excellence for Reproductive and Regenerative Medicine, Republic of Croatia","award":["KK.01.1.1.01.0008","KK.01.2.1.01.0113"],"award-info":[{"award-number":["KK.01.1.1.01.0008","KK.01.2.1.01.0113"]}]},{"name":"European Regional Development Fund","award":["KK.01.1.1.01.0008","KK.01.2.1.01.0113"],"award-info":[{"award-number":["KK.01.1.1.01.0008","KK.01.2.1.01.0113"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes15060707","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T13:32:55Z","timestamp":1716903175000},"page":"707","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0613-693X","authenticated-orcid":false,"given":"Monika Logara","family":"Klari\u0107","sequence":"first","affiliation":[{"name":"Genom Ltd., Ilica 190, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tihana","family":"Mari\u0107","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, University of Zagreb, \u0160alata 3, 10000 Zagreb, Croatia"},{"name":"Center of Excellence for Reproductive and Regenerative medicine, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucija","family":"\u017duni\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd., Ilica 190, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7795-0598","authenticated-orcid":false,"given":"Lovro","family":"Trgovec-Greif","sequence":"additional","affiliation":[{"name":"Laboratory for Advanced Genomics, Division of Molecular Medicine, Rudjer Boskovic Institute, Bijeni\u010dka Cesta 54, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9426-8344","authenticated-orcid":false,"given":"Filip","family":"Roki\u0107","sequence":"additional","affiliation":[{"name":"Laboratory for Advanced Genomics, Division of Molecular Medicine, Rudjer Boskovic Institute, Bijeni\u010dka Cesta 54, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Fioli\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd., Ilica 190, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5730-7893","authenticated-orcid":false,"given":"Ana Merkler","family":"\u0160orgi\u0107","sequence":"additional","affiliation":[{"name":"Center of Excellence for Reproductive and Regenerative medicine, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1528-5462","authenticated-orcid":false,"given":"Davor","family":"Je\u017eek","sequence":"additional","affiliation":[{"name":"Center of Excellence for Reproductive and Regenerative medicine, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia"},{"name":"Department of Histology and Embryology, School of Medicine, University of Zagreb, \u0160alata 3, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-8889","authenticated-orcid":false,"given":"Oliver","family":"Vugrek","sequence":"additional","affiliation":[{"name":"Laboratory for Advanced Genomics, Division of Molecular Medicine, Rudjer Boskovic Institute, Bijeni\u010dka Cesta 54, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Jakov\u010devi\u0107","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospital Center Zagreb, Ki\u0161pati\u0107eva 12, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8914-1691","authenticated-orcid":false,"given":"Maja","family":"Barbali\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd., Ilica 190, 10000 Zagreb, Croatia"},{"name":"Faculty of Science, University of Split, Rudjera Bo\u0161kovi\u0107 33, 21000 Split, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Belu\u017ei\u0107","sequence":"additional","affiliation":[{"name":"Laboratory for Metabolism and Aging, Division of Molecular Medicine, Rudjer Boskovic Institute, Bijeni\u010dka Cesta 54, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9078-4966","authenticated-orcid":false,"given":"Ana","family":"Katu\u0161i\u0107 Bojanac","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, University of Zagreb, \u0160alata 3, 10000 Zagreb, Croatia"},{"name":"Center of Excellence for Reproductive and Regenerative medicine, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.4103\/1008-682X.122341","article-title":"Metabolic syndrome and prostate abnormalities in male subjects of infertile couples","volume":"16","author":"Lotti","year":"2014","journal-title":"Asian J. 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