Novel FANCI mutations in Fanconi anemia with VACTERL association

NCI DCEG Cancer Sequencing Working Group, NCI DCEG Cancer Genomics Research Laboratory

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 reported cases of FA due to FANCI of whom 7 have at least 3 features of the VACTERL association (44%). This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized.

Original languageEnglish (US)
Pages (from-to)386-391
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
StatePublished - Feb 1 2016


  • Fanconi anemia
  • VACTERL association

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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