Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations

Am J Med Genet A. 2017 Jan;173(1):260-263. doi: 10.1002/ajmg.a.37998. Epub 2016 Oct 7.


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. © 2016 Wiley Periodicals, Inc.

Keywords: FANCF; Fanconi anemia; bone marrow failuer; genotype-phenotype; hematopoietic cell transplantation.

Publication types

  • Case Reports

MeSH terms

  • Alleles*
  • Biomarkers
  • Child
  • Child, Preschool
  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / therapy
  • Fanconi Anemia Complementation Group F Protein / genetics*
  • Fatal Outcome
  • Female
  • Genetic Association Studies*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype*
  • Sequence Analysis, DNA


  • Biomarkers
  • Fanconi Anemia Complementation Group F Protein