Article
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
American journal of human genetics - 1 Feb 2007
Tarpey Patrick S, Raymond F Lucy, O'Meara Sarah, Edkins Sarah, Teague Jon, Butler Adam, Dicks Ed, Stevens Claire, Tofts Calli, Avis Tim, Barthorpe Syd, Buck Gemma, Cole Jennifer, Gray Kristian, Halliday Kelly, Harrison Rachel, Hills Katy, Jenkinson Andrew, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Varian Jennifer, West Sofie, Widaa Sara, Mallya Uma, Moon Jenny, Luo Ying, Holder Susan, Smithson Sarah F, Hurst Jane A, Clayton-Smith Jill, Kerr Bronwyn, Boyle Jackie, Shaw Marie, Vandeleur Lucianne, Rodriguez Jayson, Slaugh Rachel, Easton Douglas F, Wooster Richard, Bobrow Martin, Srivastava Anand K, Stevenson Roger E, Schwartz Charles E, Turner Gillian, Gecz Jozef, Futreal P Andrew, Stratton Michael R, Partington Michael
Abstract excerpt
We have identified three truncating, two splice-site, and three missense variants at conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental retardation (XLMR). During affected subjects' adolescence, a syndrome emerged with delayed puberty, hypogonadism, relative macrocephaly, moderate short stature, central obesity, unprovoked aggressive outbursts, fine intention tremor, pes...
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