Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations

Rebecca Tryon; Heather Zierhut; Margaret L. MacMillan; John E. Wagner

doi:10.1002/ajmg.a.37998

Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations

Rebecca Tryon, Heather Zierhut, Margaret L. MacMillan, John E. Wagner

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Fanconi anemia is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital anomalies, and markedly increased risk for malignancies. Mutations in the FANCF (FA-F) gene represent approximately 2% of affected patients. Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. Here, we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation.

Original language	English (US)
Pages (from-to)	260-263
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.37998
State	Published - Jan 1 2017

Bibliographical note

Publisher Copyright:
© 2016 Wiley Periodicals, Inc.

Keywords

FANCF
Fanconi anemia
bone marrow failuer
genotype–phenotype
hematopoietic cell transplantation

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abstract = "Fanconi anemia is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital anomalies, and markedly increased risk for malignancies. Mutations in the FANCF (FA-F) gene represent approximately 2% of affected patients. Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. Here, we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation.",

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AU - Wagner, John E.

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AB - Fanconi anemia is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital anomalies, and markedly increased risk for malignancies. Mutations in the FANCF (FA-F) gene represent approximately 2% of affected patients. Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. Here, we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation.

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KW - genotype–phenotype

KW - hematopoietic cell transplantation

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Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations

Abstract

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Keywords

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