Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia
Moonjung Jung
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
These authors contributed equally.
Search for more papers by this authorParinda A. Mehta
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
These authors contributed equally.
Search for more papers by this authorCaroline S. Jiang
Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA
Search for more papers by this authorRasim O. Rosti
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorGabriel Usleaman
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorJoel M. Correa da Rosa
Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA
Search for more papers by this authorFrancis P. Lach
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorErica Goodridge
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorArleen D. Auerbach
Human Genetics and Hematology Program, The Rockefeller University, New York, NY, USA
Search for more papers by this authorStella M. Davies
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorAgata Smogorzewska
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorCorresponding Author
Farid Boulad
MSK Kids – Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA
Correspondence: Farid Boulad, MSK Kids – Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA.
E-mail: [email protected]
Search for more papers by this authorMoonjung Jung
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
These authors contributed equally.
Search for more papers by this authorParinda A. Mehta
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
These authors contributed equally.
Search for more papers by this authorCaroline S. Jiang
Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA
Search for more papers by this authorRasim O. Rosti
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorGabriel Usleaman
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorJoel M. Correa da Rosa
Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA
Search for more papers by this authorFrancis P. Lach
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorErica Goodridge
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorArleen D. Auerbach
Human Genetics and Hematology Program, The Rockefeller University, New York, NY, USA
Search for more papers by this authorStella M. Davies
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
Search for more papers by this authorAgata Smogorzewska
Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA
Search for more papers by this authorCorresponding Author
Farid Boulad
MSK Kids – Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA
Correspondence: Farid Boulad, MSK Kids – Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA.
E-mail: [email protected]
Search for more papers by this authorSummary
Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA–FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly.
Conflicts of interest
The authors declare no competing financial interests.
Supporting Information
| Filename | Description |
|---|---|
| bjh17061-sup-0001-TableS1.xlsxapplication/excel, 40.7 KB | Table SI. Demographics of the discovery cohort. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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