Unveiling a pathogenic <em>FANCA</em> gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing

Cuero-Quezada,Idalid; Brukman-Jiménez,Sinhue Alejandro; Corona-Rivera,Alfredo; Corona-Rivera,Jorge Román; Ortiz-Sandoval,María Magdalena; Juárez-Zucco,Leonardo; Flores-Leura,Fernando Alexis; Bustos-Rodríguez,Felipe De Jesús; Bobadilla-Morales,Lucina

doi:10.3892/etm.2025.12798

Unveiling a pathogenic FANCA gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing

Authors:
- Idalid Cuero-Quezada
- Sinhue Alejandro Brukman-Jiménez
- Alfredo Corona-Rivera
- Jorge Román Corona-Rivera
- María Magdalena Ortiz-Sandoval
- Leonardo Juárez-Zucco
- Fernando Alexis Flores-Leura
- Felipe De Jesús Bustos-Rodríguez
- Lucina Bobadilla-Morales
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Affiliations: Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México, Cytogenetics Unit, Hospital Civil de Guadalajara Dr Juan I. Menchaca, Guadalajara, Jalisco 44340, México, Human Genetics Institute ‘Dr Enrique Corona Rivera’, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México, Center for Registry and Research in Congenital Anomalies, Service of Genetics, Pediatrics Division, Hospital Civil de Guadalajara Dr Juan I. Menchaca, Guadalajara, Jalisco 44340, México, Transplant Unit of Hematopoietic Progenitor Cells, Pediatric Hematology and Oncology Department, Hospital Civil de Guadalajara Dr Juan I. Menchaca, Guadalajara, Jalisco 44340, México, Innovation and Research Department, University of Advanced Technologies, Zapopan, Jalisco 45050, México, Department of Anatomy and Pathology, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara, Jalisco 44340, México
Published online on: January 9, 2025 https://doi.org/10.3892/etm.2025.12798
Article Number: 48
Copyright: © Cuero-Quezada et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm. The current study aimed to present a pathogenic variant in FANCA observed in three Mexican siblings, as detected by next‑generation sequencing (NGS). The results of an induced chromosomal breakage test showed chromosomal breaks and radial figures, which were compatible with FA, and a normal karyotype. NGS TruSight Hereditary Cancer Panel analysis resulted in the FANCA:c.3931_3932delAG variant being classified as pathogenic according to bioinformatics analysis. The present study reports a pathogenic variant in FANCA that was found in a Mexican family with FA, in which one of the siblings exhibited a suggestive mucosa‑assisted lymphoid tissue lymphoma, which is an atypical presentation of neoplasia associated with FA.

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