Access

Brief Communication

Nature Genetics 36, 1159–1161 (1 November 2004) | doi:10.1038/ng1449

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 , K|[aacute]|roly M|[eacute]|hes , Richard Nash , Nathanial Robin , Nora Shannon , John Tolmie , John Swansbury , Alexandre Irrthum , Jenny Douglas & Nazneen Rahman

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.