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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

2011; Wiley; Volume: 82; Issue: 3 Linguagem: Inglês

10.1111/j.1399-0004.2011.01839.x

1399-0004

Kirstine Ravn, SG Lindquist, Karen Leth Nielsen, T.L. Dahm, Zeynep Tümer,

RNA modifications and cancer

Clinical GeneticsVolume 82, Issue 3 p. 292-294 Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair K Ravn, Corresponding Author K Ravn Applied Human Molecular Genetics Center for Rett syndromeKirstine RavnApplied Human Molecular GeneticsKennedy CenterGl. Landevej 7,DK-2600 GlostrupDenmarkTel.: +45 43260142fax: +45 43431130e-mail: [email protected]Search for more papers by this authorSG Lindquist, SG Lindquist Genetic Counselling Clinic, Kennedy Center, Glostrup, DenmarkSearch for more papers by this authorK Nielsen, K Nielsen Applied Human Molecular GeneticsSearch for more papers by this authorTL Dahm, TL Dahm Pediatric Department, Hillerød Hospital, Hillerød, DenmarkSearch for more papers by this authorZ Tümer, Z Tümer Applied Human Molecular Genetics Institute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this author K Ravn, Corresponding Author K Ravn Applied Human Molecular Genetics Center for Rett syndromeKirstine RavnApplied Human Molecular GeneticsKennedy CenterGl. Landevej 7,DK-2600 GlostrupDenmarkTel.: +45 43260142fax: +45 43431130e-mail: [email protected]Search for more papers by this authorSG Lindquist, SG Lindquist Genetic Counselling Clinic, Kennedy Center, Glostrup, DenmarkSearch for more papers by this authorK Nielsen, K Nielsen Applied Human Molecular GeneticsSearch for more papers by this authorTL Dahm, TL Dahm Pediatric Department, Hillerød Hospital, Hillerød, DenmarkSearch for more papers by this authorZ Tümer, Z Tümer Applied Human Molecular Genetics Institute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this author First published: 19 December 2011 https://doi.org/10.1111/j.1399-0004.2011.01839.xCitations: 19Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Tarpey PS, Raymond FL, O’Meara S et al. 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. Am J Hum Genet 2007: 80 (2): 345–352. 2 Zou Y, Liu Q, Chen B et al. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. Am J Hum Genet 2007: 80 (3): 561–566. 3 Kerzendorfer C, Hart L, Colnaghi R et al. CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mech Ageing Dev. 2011: 132 (8–9): 366–373. 4 Cabezas DA, Slaugh R, Abidi F et al. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet 2000: 37 (9): 663–668. 5 Badura-Stronka M, Jamsheer A, Materna-Kiryluk A et al. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Clin Genet 2010: 77 (2): 141–144. 6 Isidor B, Pichon O, Baron S, David A, Le CC. Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia. Am J Med Genet A 2010: 152A (1): 175–180. 7 Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51 (6): 1229–1239. 8 Kerzendorfer C, Whibley A, Carpenter G et al. Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Hum Mol Genet 2010: 19 (7): 1324–1334. Citing Literature Volume82, Issue3September 2012Pages 292-294 ReferencesRelatedInformation