Article
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nature genetics - 1 Nov 2004
Hanks Sandra, Coleman Kim, Reid Sarah, Plaja Alberto, Firth Helen, Fitzpatrick David, Kidd Alexa, Méhes Károly, Nash Richard, Robin Nathanial, Shannon Nora, Tolmie John, Swansbury John, Irrthum Alexandre, Douglas Jenny, Rahman Nazneen
Abstract excerpt
Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, we identified truncating and missense mutations of BUB1B, which encodes BUBR1, a key protein in the mitotic spindle checkpoint....
Topics
- Abnormalities, Multiple
- Alleles
- Aneuploidy
- Cell Cycle Proteins
- Genetic Predisposition to Disease
- Humans
- Molecular Sequence Data
- Mosaicism
- Mutation
- Neoplasms