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Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series
Fernando Alexis Flores-Leura1,2, Sinhue Alejandro Brukman-Jiménez3, Alfredo Corona-Rivera2,3
1Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
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.
Insights
Fanconi anemia (FA) in Mexican patients presents with high rates of short stature, limb abnormalities, and microphthalmia. Molecular analysis revealed FANCA variants as the most common cause, with a notable regional recurrence.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome.
- Clinical and genetic manifestations of FA can vary significantly across different populations.
- Understanding population-specific FA patterns is crucial for diagnosis and management.
Purpose of the Study:
- To characterize the clinical and molecular spectrum of Fanconi anemia in Mexican patients.
- To identify common genetic variants and phenotypic presentations in this cohort.
- To explore potential population-specific genetic enrichments.
Main Methods:
- Evaluated 14 patients with suspected Fanconi anemia.
- Performed cytogenetic analysis, Multiplex Ligation-dependent Probe Amplification (MLPA), and Next-Generation Sequencing (NGS).
- Correlated clinical findings with molecular genetic results.
Main Results:
- Short stature (100%), upper limb abnormalities (78.6%), and microphthalmia (71.4%) were prevalent clinical features.
- Pathogenic variants were identified in FANCA (78.6%), FANCC (14.3%), and FANCE (7.1%).
- A recurrent FANCA variant (c.3931_3932del) was found in six patients from Michoacan, suggesting regional enrichment.
Conclusions:
- This study expands the clinical and molecular understanding of Fanconi anemia in the Mexican population.
- Phenotypic and genomic data integration is vital for recognizing population-specific FA patterns.
- Highlights the importance of genetic diagnostics in diagnosing FA with characteristic clinical features.
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