{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:08:53Z","timestamp":1777867733663,"version":"3.51.4"},"reference-count":29,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fanconi anemia (FA) is a rare inherited disorder characterized by genomic instability, congenital anomalies, and progressive bone marrow failure; such manifestations may vary across populations, partly due to differences in genetic background. This study aims to describe the clinical and molecular spectrum of FA in Mexican patients. A total of 14 patients with clinical suspicion of FA were evaluated; cytogenetic and molecular analyses were successfully performed using MLPA and NGS. Clinically, short stature was present in 100% (n = 14) of the patients, followed by upper limb abnormalities, which were present in 78.6% (n = 11) of the patients, and microphthalmia, which was present in 71.4% (n = 10) of the patients. Molecular analysis identified pathogenic variants in FANCA (78.6%, n = 11), FANCC (14.3%, n = 2), and FANCE (7.1%, n = 1), with a relatively balanced distribution of homozygous (57.1%, n = 8) and compound heterozygous variants (42.9%, n = 6). Notably, the FANCA:c.3931_3932del variant was recurrent in six patients from the same geographic region (Michoacan), suggesting possible regional enrichment. Our findings expand the clinical and molecular characterization of FA in Mexican patients and underscore the importance of integrating phenotypic and genomic data to better understand population-specific patterns of this disorder.<\/jats:p>","DOI":"10.3390\/ijms27094015","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T10:47:28Z","timestamp":1777546048000},"page":"4015","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9255-5385","authenticated-orcid":false,"given":"Fernando Alexis","family":"Flores-Leura","sequence":"first","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2715-7003","authenticated-orcid":false,"given":"Sinhue Alejandro","family":"Brukman-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Corona-Rivera","sequence":"additional","affiliation":[{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"},{"name":"Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Idalid","family":"Cuero-Quezada","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1277-2687","authenticated-orcid":false,"given":"Jos\u00e9 de Jes\u00fas","family":"P\u00e9rez-Becerra","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5131-139X","authenticated-orcid":false,"given":"Juan Antonio","family":"Ram\u00edrez-Corona","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6369-0123","authenticated-orcid":false,"given":"V\u00edctor Ulises","family":"Rodr\u00edguez-Machuca","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Magdalena","family":"Ortiz-Sandoval","sequence":"additional","affiliation":[{"name":"Transplant Unit of Henatopoietic Progenitor, Pediatric Hematology and Oncology Department, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1tima Jazm\u00edn","family":"Hinojosa-Pi\u00f1a","sequence":"additional","affiliation":[{"name":"Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga Lidia","family":"Navarro-Barba","sequence":"additional","affiliation":[{"name":"Division of Auxiliary Diagnostic and Treatment Services, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Rom\u00e1n","family":"Corona-Rivera","sequence":"additional","affiliation":[{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucina","family":"Bobadilla-Morales","sequence":"additional","affiliation":[{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico"},{"name":"Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1007\/s00439-022-02462-9","article-title":"Fanconi Anemia: Current Insights Regarding Epidemiology, Cancer, and DNA Repair","volume":"141","author":"Peake","year":"2022","journal-title":"Hum. 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