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

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...

Full description

Saved in:
Bibliographic Details
Published in:Clinical case reports 2023-01, Vol.11 (1), p.e6810-n/a
Main Authors: Geilmann, Shelby, Solstad, Rachel, Palmquist, Rachel, Flores Daboub, Josue, Botto, Lorenzo D., Grubb, Peter H., Bonkowsky, Josh L., Longo, Nicola, Malone Jenkins, Sabrina
Format: Article
Language:English
Subjects:
Airway management
Anemia
Blood
Bone marrow
Bronchoscopy
Cancer
Case Report
Case reports
Congenital diseases
DNA damage
DNA repair
Edema
Fanconi anemia
Genes
Genetic counseling
Genomes
Genotype & phenotype
heterozygote
Intellectual disabilities
Intubation
Lung diseases
Microcephaly
Patients
premature infant
RAD51 Recombinase
tracheobronchomalacia
Ventilators
whole genome sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. The four described patients with RAD51‐associated Fanconi anemia share several characteristics. However, our patient also presented with tracheobronchomalacia and other uncommon anomalies that help expand the phenotype of this rare disease.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6810