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

ABSTRACT: 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.

SUBMITTER: Jung M

PROVIDER: S-EPMC7914271 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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

Jung Moonjung M Mehta Parinda A PA Jiang Caroline S CS Rosti Rasim O RO Usleaman Gabriel G Correa da Rosa Joel M JM Lach Francis P FP Goodridge Erica E Auerbach Arleen D AD Davies Stella M SM Smogorzewska Agata A Boulad Farid F

British journal of haematology 20200831 5

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 ...[more]

PMID: 32866285

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