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DOI 10.1086/511134

Медицинская библиотека · American journal of human genetics · 2007

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.

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

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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 cavus, and abnormalities of the toes. This syndrome was first described by Cazebas et al., in a family that was included in our study and that carried a CUL4B missense variant. CUL4B is a ubiquitin E3 ligase subunit implicated in the regulation of several biological processes, and CUL4B is the first XLMR gene that encodes an E3 ubiquitin ligase. The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.

Для цитирования: 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. 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. 2007. DOI: 10.1086/511134.

Предметные рубрики MeSH

Abnormalities, MultipleAggressionAmino Acid SequenceChildChild, PreschoolCullin ProteinsFoot DeformitiesHeadHumansHypogonadismMaleX-Linked Intellectual DisabilityMolecular Sequence DataMutationObesityProtein SubunitsSeizuresTremorUbiquitin-Protein Ligases
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