@article{ref1,
title="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",
journal="American journal of human genetics",
year="2007",
author="Tarpey, Patrick S. and Raymond, F. Lucy and O'Meara, Sarah and Edkins, Sarah and Teague, Jon and Butler, Adam and Dicks, Ed and Stevens, Claire and Tofts, Calli and Avis, Tim and Barthorpe, Syd and Buck, Gemma and Cole, Jennifer and Gray, Kristian and Halliday, Kelly and Harrison, Rachel and Hills, Katy and Jenkinson, Andrew and Jones, David and Menzies, Andrew and Mironenko, Tatiana and Perry, Janet and Raine, Keiran and Richardson, David and Shepherd, Rebecca and Small, Alexandra and Varian, Jennifer and West, Sofie and Widaa, Sara and Mallya, Uma and Moon, Jenny and Luo, Ying and Holder, Susan and Smithson, Sarah F. and Hurst, Jane A. and Clayton-Smith, Jill and Kerr, Bronwyn and Boyle, Jackie and Shaw, Marie and Vandeleur, Lucianne and Rodriguez, Jayson and Slaugh, Rachel and Easton, Douglas F. and Wooster, Richard and Bobrow, Martin and Srivastava, Anand K. and Stevenson, Roger E. and Schwartz, Charles E. and Turner, Gillian and Gecz, Jozef and Futreal, P. Andrew and Stratton, Michael R. and Partington, Michael",
volume="80",
number="2",
pages="345-352",
abstract="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.<p /><p>Language: en</p>",
language="en",
issn="0002-9297",
doi="10.1086/511134",
url="http://dx.doi.org/10.1086/511134"
}