{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:20:57Z","timestamp":1783786857188,"version":"3.55.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2025,1]]},"abstract":"\n Background:<\/jats:title>\n \n Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved. Whole exome sequencing (WES) is employed to diagnose rare Mendelian disorders when standard tests fail to provide a definitive pathological diagnosis. However, WES has the potential to reveal pathogenic variants that may complicate the diagnostic process. In this study, the method was chosen to examine\n SLX4\/FANCP<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Aims:<\/jats:title>\n The goal of our research was to suggest that the new potentially harmful genetic mutation, c.4921dup A>AC (p.Val1641GlyfsTer15), could lead to the development of FA.<\/jats:p>\n <\/jats:sec>\n \n Methods and Result:<\/jats:title>\n \n This patient was analyzed by performing the WES test, and a homozygous pathogenic variant in the\n SLX4<\/jats:italic>\n gene (c.4921dupA>AC - chr16-3633329-p.Val1641GlyfsTer15) was identified in this patient. The candidate variant was confirmed by Sanger sequencing. The parent of the patient and the fetus of this family were also examined using Sanger sequencing, and they were determined to be carriers and heterozygous.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n Our research has uncovered a new form of pathogenic genetic variation in the\n SLX4<\/jats:italic>\n gene, providing new insights into the molecular causes of this condition. To date, the c.4921dup A>AC (p.Val1641GlyfsTer15) pathogenic variant has not been observed or reported worldwide. These findings could be valuable for investigating the mechanisms of FA and may offer insights for preventing, diagnosing, and managing the risks associated with this disease.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1089\/gtmb.2024.0467","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T16:45:48Z","timestamp":1737564348000},"page":"7-11","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: A Novel Homozygous Variant in the\n SLX4<\/i>\n Gene Causes Fanconi Anemia"],"prefix":"10.1177","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1508-9549","authenticated-orcid":false,"given":"Sepideh","family":"Eisazaei","sequence":"first","affiliation":[{"name":"Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Naderi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Genetics of Non-communicable Disease Research Center, Ali Ibne Abitaleb Hospital, Zahedan University of Medical Sciences, Zahedan, Iran."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dor Mohammad","family":"Kordi Tamandani","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,1,20]]},"reference":[{"key":"e_1_3_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00062752-200301000-00011"},{"key":"e_1_3_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22206"},{"key":"e_1_3_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jncics\/pkaa117"},{"key":"e_1_3_6_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.10.11.15818"},{"issue":"1","key":"e_1_3_6_6_1","first-page":"11","article-title":"The genetic and molecular basis of Fanconi anemia","volume":"668","author":"de Winter JP","year":"2009","unstructured":"de Winter JP, , Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res, 2009; 668(1-2):11-19; doi: 10.1016\/j.mrfmmm.2008.11.004","journal-title":"Mutat Res"},{"key":"e_1_3_6_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.2000.0085"},{"key":"e_1_3_6_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/10409238.2018.1488803"},{"key":"e_1_3_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.750"},{"issue":"10","key":"e_1_3_6_10_1","first-page":"147","article-title":"Chromosomal analysis and BRCA2* 617delT\/88delTG and BRIP1 (c. 2392C> T) mutations of Fanconi anemia in Iranian family, and its correlation to breast cancer susceptibility","volume":"7","author":"Kooshyar MM","year":"2015","unstructured":"Kooshyar MM, , Nasiri M, , Karimiani EG, et al. Chromosomal analysis and BRCA2* 617delT\/88delTG and BRIP1 (c. 2392C> T) mutations of Fanconi anemia in Iranian family, and its correlation to breast cancer susceptibility. J Chem Pharm Res, 2015; 7(10):147-153. ISSN: 975-7384.","journal-title":"J Chem Pharm Res"},{"key":"e_1_3_6_11_1","volume-title":"GeneReviews\u00ae","author":"Mehta PA","year":"2002","unstructured":"Mehta PA, , Ebens C. Fanconi Anemia. In: GeneReviews\u00ae. (Adam MP, , Feldman J, , Mirzaa GM, , Pagon RA, , Wallace SE, , Amemiya A., eds). University of Washington: Seattle, WA; 2002. [updated 2021 Jun 3]."},{"key":"e_1_3_6_12_1","doi-asserted-by":"publisher","DOI":"10.3892\/br.2021.1450"},{"key":"e_1_3_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22221"},{"key":"e_1_3_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0142-6"},{"key":"e_1_3_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.1"},{"issue":"1","key":"e_1_3_6_16_1","first-page":"85","article-title":"Fanconi Anemia: Examining guidelines for testing all patients with hand anomalies using a machine learning approach","volume":"9","author":"Wallner C","year":"2022","unstructured":"Wallner C, , Hurst J, , Behr B, et al. Fanconi Anemia: Examining guidelines for testing all patients with hand anomalies using a machine learning approach. Children (Basel), 2022; 9(1):85; doi: 10.3390\/children9010085","journal-title":"Children (Basel)"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2024.0467","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2024.0467","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2024.0467","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:38Z","timestamp":1777447298000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/gtmb.2024.0467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1089\/gtmb.2024.0467"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2024.0467","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}