A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies

Abstract

Abstract Fanconi anemia, FA, is a rare, multi‐system disease caused by pathogenic variants in DNA repair genes. We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation expands the phenotype of RAD51‐associated FA, reported only in three patients previously.

Keywords

• Fanconi anemia
• heterozygote
• microcephaly
• premature infant
• RAD51 Recombinase
• tracheobronchomalacia