Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia

Hum Mutat. 2006 Feb;27(2):214. doi: 10.1002/humu.9402.


We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Bone Marrow Cells / cytology
  • Brazil
  • Child
  • DNA Mutational Analysis
  • Exons
  • Fanconi Anemia Complementation Group C Protein / genetics*
  • Female
  • Gene Deletion
  • Genetic Complementation Test
  • Humans
  • Mutation*
  • RNA Splicing


  • Fanconi Anemia Complementation Group C Protein