Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

Elena Nicchia, Francesco Benedicenti, Daniela De Rocco, Chiara Greco, Roberta Bottega, Francesca Inzana, Michela Faleschini, Serena Bonin, Enrico Cappelli, Massimo Mogni, Franco Stanzial, Johanna Svahn, Carlo Dufour, Anna Savoia

Research output: Contribution to journalArticlepeer-review


Background: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, FANCA, FANCC, and FANCG account for approximately 85% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups. Methods: The FA genes were analyzed using a next generation sequencing approach in two unrelated families. Results: The analysis identified the same, c.484_485del, homozygous mutation of FANCF in both families. A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations. Conclusion: The systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling. Birth Defects Research (Part A) 103:1003-1010, 2015.

Original languageEnglish
Pages (from-to)1003-1010
Number of pages8
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Issue number12
Publication statusPublished - Dec 1 2015


  • Fanconi anemia
  • Genetic heterogeneity
  • Next generation sequencing
  • VACTERL-H association

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology


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