A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies. Issue 1 (19th January 2023)

• Record Type: Journal Article
• Authors: Geilmann, Shelby; Solstad, Rachel; Palmquist, Rachel; Flores Daboub, Josue; Botto, Lorenzo D.; Grubb, Peter H.; Bonkowsky, Josh L.; Longo, Nicola; Malone Jenkins, Sabrina
• Is Part Of: Clinical case reports. Volume 11:Issue 1(2023)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2023-01-19
• Subjects: Fanconi anemia -- heterozygote -- microcephaly -- premature infant -- RAD51 Recombinase -- tracheobronchomalacia -- whole genome sequencing; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6810
• Languages: English
• ISSNs: 2050-0904

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. Abstract : 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.