Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen Firth, David Fitzpatrick, Alexa Kidd, Károly Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman

Research output: Contribution to journalArticlepeer-review


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. These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development.
Original languageEnglish
Pages (from-to)1159-61
Number of pages3
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2004


  • Abnormalities, Multiple
  • Alleles
  • Aneuploidy
  • Cell Cycle Proteins
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Sequence Data
  • Mosaicism
  • Mutation
  • Neoplasms
  • Protein Kinases
  • Protein-Serine-Threonine Kinases
  • Spindle Apparatus


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