1636+1G>A mutation was discovered in intron 12 in the FANCG gene of patient FA465.
In the three patients in whom the second pathogenic mutation was not identified, large deletions, insertions or rearrangements in the FANCG gene cannot be excluded as the cause of FA.
Considering that only private mutations were identified in this study, it is possible to conclude that a second common pathogenic mutation in this population is unlikely to be found in the FANCG gene.
Full sequencing of the FANCG gene is then warranted in black FA patients who are found to be heterozygous for the FANCG founder mutation as a second mutation can sometimes be identified.
In patients in whom the FANCG founder mutation is not identified, FA is probably due to a gene other than FANCG.