A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
Shelby GeilmannRachel SolstadRachel PalmquistJosue A Flores-DaboubLorenzo D BottoPeter H GrubbJoshua Leith BonkowskyNicola LongoSabrina Malone JenkinsPublished in: Clinical case reports (2023)
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.
Keyphrases
- dna repair
- dna damage
- end stage renal disease
- chronic kidney disease
- dna damage response
- newly diagnosed
- ejection fraction
- prognostic factors
- peritoneal dialysis
- iron deficiency
- genome wide
- early onset
- oxidative stress
- gene expression
- copy number
- patient reported outcomes
- dna methylation
- transcription factor
- drug induced
- bioinformatics analysis