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...

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Autores principales: Geilmann, Shelby, Solstad, Rachel, Palmquist, Rachel, Flores Daboub, Josue, Botto, Lorenzo D., Grubb, Peter H., Bonkowsky, Josh L., Longo, Nicola, Malone Jenkins, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850852/
https://www.ncbi.nlm.nih.gov/pubmed/36698515
http://dx.doi.org/10.1002/ccr3.6810
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author Geilmann, Shelby
Solstad, Rachel
Palmquist, Rachel
Flores Daboub, Josue
Botto, Lorenzo D.
Grubb, Peter H.
Bonkowsky, Josh L.
Longo, Nicola
Malone Jenkins, Sabrina
author_facet Geilmann, Shelby
Solstad, Rachel
Palmquist, Rachel
Flores Daboub, Josue
Botto, Lorenzo D.
Grubb, Peter H.
Bonkowsky, Josh L.
Longo, Nicola
Malone Jenkins, Sabrina
author_sort Geilmann, Shelby
collection PubMed
description 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.
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spelling pubmed-98508522023-01-24 A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies Geilmann, Shelby Solstad, Rachel Palmquist, Rachel Flores Daboub, Josue Botto, Lorenzo D. Grubb, Peter H. Bonkowsky, Josh L. Longo, Nicola Malone Jenkins, Sabrina Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-01-19 /pmc/articles/PMC9850852/ /pubmed/36698515 http://dx.doi.org/10.1002/ccr3.6810 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Geilmann, Shelby
Solstad, Rachel
Palmquist, Rachel
Flores Daboub, Josue
Botto, Lorenzo D.
Grubb, Peter H.
Bonkowsky, Josh L.
Longo, Nicola
Malone Jenkins, Sabrina
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title_full A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title_fullStr A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title_full_unstemmed A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title_short A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
title_sort novel rad51 variant resulting in fanconi anemia identified in an infant with multiple congenital anomalies
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850852/
https://www.ncbi.nlm.nih.gov/pubmed/36698515
http://dx.doi.org/10.1002/ccr3.6810
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