| Autor: |
Patrick S. Tarpey, Richard Wooster, Tatiana Mironenko, David T. Jones, Michael R. Stratton, Jackie Boyle, Claire Stevens, Sarah F. Smithson, Janet Perry, Alexandra Small, Kelly Halliday, Sara Widaa, Syd Barthorpe, Jennifer Varian, David S. Richardson, Anand Srivastava, Lucianne Vandeleur, Sarah O’Meara, Jozef Gecz, Charles E. Schwartz, Jenny Moon, Jennifer Cole, Ed Dicks, Tim Avis, Sarah Edkins, Susan E. Holder, Andrew Menzies, Roger E. Stevenson, Gillian Turner, Andrew M. Jenkinson, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Jill Clayton-Smith, Jane A. Hurst, Gemma Buck, Jayson Rodriguez, Rachel Harrison, Keiran Raine, Marie Shaw, Rebecca Shepherd, Katy Hills, Calli Tofts, Uma Mallya, Bronwyn Kerr, Adam Butler, Jon W. Teague, Rachel Slaugh, Sofie West, P. Andrew Futreal, Martin Bobrow, Michael Partington, Kristian Gray |
| Jazyk: |
angličtina |
| Rok vydání: |
2007 |
| Předmět: |
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| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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