Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
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.
Yates
Jane
J
Oregon Health and Science University Cancer Institute, Portland, Oregon 97239, USA.
Keeble
Winifred
W
Pals
Gerard
G
Ameziane
Najim
N
van Spaendonk
Rosalina
R
Olson
Susan
S
Akkari
Yassmine
Y
Pasquini
Ricardo
R
Bagby
Grover
G
D001854:Bone Marrow Cells / Q000166:cytology; D001938:Brazil; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D052218:Fanconi Anemia Complementation Group C Protein / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005816:Genetic Complementation Test; D006801:Humans; D009154:Mutation; D012326:RNA Splicing
D052218:Fanconi Anemia Complementation Group C Protein