Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

Summary 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 p...

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Bibliographic Details
Published in:British journal of haematology 2021-06, Vol.193 (5), p.971-975
Main Authors: Jung, Moonjung, Mehta, Parinda A., Jiang, Caroline S., Rosti, Rasim O., Usleaman, Gabriel, Correa da Rosa, Joel M., Lach, Francis P., Goodridge, Erica, Auerbach, Arleen D., Davies, Stella M., Smogorzewska, Agata, Boulad, Farid
Format: Article
Language:English
Subjects:
AML
Anemia
bone marrow failure
Fanconi anemia
Fanconi syndrome
Genetic disorders
Hematology
MDS
Microencephaly
Phenotypes
Phenotypic variations
prognosis
sibling
Siblings
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Summary:Summary 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.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.17061