Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series

Flores-Leura, Fernando Alexis; Brukman-Jiménez, Sinhue Alejandro; Corona-Rivera, Alfredo; Cuero-Quezada, Idalid; Pérez-Becerra, José de Jesús; Ramírez-Corona, Juan Antonio; Rodríguez-Machuca, Víctor Ulises; Ortiz-Sandoval, María Magdalena; Hinojosa-Piña, Fátima Jazmín; Navarro-Barba, Olga Lidia; Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina

doi:10.3390/ijms27094015

Open AccessArticle

Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series

by

Fernando Alexis Flores-Leura

^1,2

,

Sinhue Alejandro Brukman-Jiménez

³

,

Alfredo Corona-Rivera

^2,3,

Idalid Cuero-Quezada

¹,

José de Jesús Pérez-Becerra

^1,2

,

Juan Antonio Ramírez-Corona

^1,2

,

Víctor Ulises Rodríguez-Machuca

¹

,

María Magdalena Ortiz-Sandoval

⁴,

Fátima Jazmín Hinojosa-Piña

⁵,

Olga Lidia Navarro-Barba

⁶,

Jorge Román Corona-Rivera

² and

Lucina Bobadilla-Morales

^2,3,*

¹

Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico

²

Human Genetics Institute “Dr. Enrique Corona Rivera”, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico

³

Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico

⁴

Transplant Unit of Henatopoietic Progenitor, Pediatric Hematology and Oncology Department, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico

⁵

Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico

⁶

Division of Auxiliary Diagnostic and Treatment Services, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico

^*

Author to whom correspondence should be addressed.

Int. J. Mol. Sci. 2026, 27(9), 4015; https://doi.org/10.3390/ijms27094015

Submission received: 30 March 2026 / Revised: 27 April 2026 / Accepted: 28 April 2026 / Published: 30 April 2026

(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)

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Abstract

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.

Keywords: Fanconi anemia; Mexico; FANCA; FANCC; FANCE; case series

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MDPI and ACS Style

Flores-Leura, F.A.; Brukman-Jiménez, S.A.; Corona-Rivera, A.; Cuero-Quezada, I.; Pérez-Becerra, J.d.J.; Ramírez-Corona, J.A.; Rodríguez-Machuca, V.U.; Ortiz-Sandoval, M.M.; Hinojosa-Piña, F.J.; Navarro-Barba, O.L.; et al. Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series. Int. J. Mol. Sci. 2026, 27, 4015. https://doi.org/10.3390/ijms27094015

AMA Style

Flores-Leura FA, Brukman-Jiménez SA, Corona-Rivera A, Cuero-Quezada I, Pérez-Becerra JdJ, Ramírez-Corona JA, Rodríguez-Machuca VU, Ortiz-Sandoval MM, Hinojosa-Piña FJ, Navarro-Barba OL, et al. Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series. International Journal of Molecular Sciences. 2026; 27(9):4015. https://doi.org/10.3390/ijms27094015

Chicago/Turabian Style

Flores-Leura, Fernando Alexis, Sinhue Alejandro Brukman-Jiménez, Alfredo Corona-Rivera, Idalid Cuero-Quezada, José de Jesús Pérez-Becerra, Juan Antonio Ramírez-Corona, Víctor Ulises Rodríguez-Machuca, María Magdalena Ortiz-Sandoval, Fátima Jazmín Hinojosa-Piña, Olga Lidia Navarro-Barba, and et al. 2026. "Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series" International Journal of Molecular Sciences 27, no. 9: 4015. https://doi.org/10.3390/ijms27094015

APA Style

Flores-Leura, F. A., Brukman-Jiménez, S. A., Corona-Rivera, A., Cuero-Quezada, I., Pérez-Becerra, J. d. J., Ramírez-Corona, J. A., Rodríguez-Machuca, V. U., Ortiz-Sandoval, M. M., Hinojosa-Piña, F. J., Navarro-Barba, O. L., Corona-Rivera, J. R., & Bobadilla-Morales, L. (2026). Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series. International Journal of Molecular Sciences, 27(9), 4015. https://doi.org/10.3390/ijms27094015

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Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series

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