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

Autor: Geilmann S; School of Medicine University of Utah Salt Lake City Utah USA., Solstad R; Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA., Flores Daboub J; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Botto LD; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Grubb PH; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA., Longo N; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Malone Jenkins S; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA.; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2023 Jan 19; Vol. 11 (1), pp. e6810. Date of Electronic Publication: 2023 Jan 19 (Print Publication: 2023).
DOI: 10.1002/ccr3.6810
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to disclose.
(© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje