RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL - PubMed (original) (raw)

Case Reports

. 2026 Mar;109(3):591-597.

doi: 10.1111/cge.70077. Epub 2025 Sep 28.

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Case Reports

RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL

Burak Altintas et al. Clin Genet. 2026 Mar.

Abstract

Fanconi anemia (FA) is a multiorgan disease caused by pathogenic variants in genes involved in the FA/BRCA DNA repair pathway. We report a 10-year-old female who presented with multiple congenital anomalies consistent with VACTERL (Vertebral anomalies, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal/duodenal atresia, and Renal and Limb anomalies) and PHENOS (abnormal Pigmentation, small Head, small Eyes, central Nervous system anomalies, Otological anomalies, short Stature), and later exhibited global developmental delay. She tested positive for a de novo likely pathogenic variant in RAD51 and had inconclusive chromosomal breakage studies. This case provides evidence for a common association between RAD51-related FA and VACTERL and expands its genotypic and phenotypic spectra.

Keywords: Fanconi anemia; VACTERL; cancer predisposition; genotype–phenotype correlation.

© 2025 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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References

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