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1. Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Author

Yates J, Keeble W, Pals G, Ameziane N, van Spaendonk R, Olson S, Akkari Y, Pasquini R, and Bagby G

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

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., (2006 Wiley-Liss, Inc.)

Published
2006
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