First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis
2013; Wiley; Volume: 161; Issue: 5 Linguagem: Inglês
10.1002/ajmg.a.35813
ISSN1552-4833
AutoresSara Ciceri, Elisa Cattaneo, C Fossati, Paolo Radice, Angelo Selicorni, Daniela Perotti,
Tópico(s)Genetic factors in colorectal cancer
ResumoAmerican Journal of Medical Genetics Part AVolume 161, Issue 5 p. 1173-1176 Research Letter First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis Sara Ciceri, Sara Ciceri Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, ItalySearch for more papers by this authorElisa Cattaneo, Elisa Cattaneo UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorChiara Fossati, Chiara Fossati UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorPaolo Radice, Paolo Radice Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy FIRC Institute of Molecular Oncology Foundation, Milano, ItalySearch for more papers by this authorAngelo Selicorni, Angelo Selicorni UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorDaniela Perotti Ph.D., Corresponding Author Daniela Perotti Ph.D. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, ItalyUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Amadeo 42, 20133 Milano, Italy. E-mail: [email protected]Search for more papers by this author Sara Ciceri, Sara Ciceri Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, ItalySearch for more papers by this authorElisa Cattaneo, Elisa Cattaneo UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorChiara Fossati, Chiara Fossati UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorPaolo Radice, Paolo Radice Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy FIRC Institute of Molecular Oncology Foundation, Milano, ItalySearch for more papers by this authorAngelo Selicorni, Angelo Selicorni UOS Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, Monza, ItalySearch for more papers by this authorDaniela Perotti Ph.D., Corresponding Author Daniela Perotti Ph.D. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, ItalyUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Amadeo 42, 20133 Milano, Italy. E-mail: [email protected]Search for more papers by this author First published: 13 March 2013 https://doi.org/10.1002/ajmg.a.35813Citations: 5 Sara Ciceri and Elisa Cattaneo contributed equally to this work. Angelo Selicorni and Daniela Perotti contributed equally to this work. Read 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 Deniz FE, Koseoglu RD. 2007. Osteopathia striata with cranial sclerosis and lumbar spinal stenosis. Acta Neurochir (Wien) 149: 811–815. Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP. 2010. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet 47: 791–794. Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Minaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP. 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. Am J Med Genet Part A 155A: 2397–2408. Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 41: 95–100. Joseph DJ, Ichikawa S, Econs MJ. 2010. Mosaicism in osteopathia striata with cranial sclerosis. J Clin Endocrinol Metab 95: 1506–1507. Klaus A, Birchmeier W. 2008. Wnt signalling and its impact on development and cancer. Nat Rev Cancer 8: 387–398. Luerssen K, Ptok M. 2006. Osteopathia striata with cranial sclerosis and hearing loss. Eur Arch Otorhinolaryngol 263: 123–126. Major MB, Camp ND, Berndt JD, Yi X, Goldenberg SJ, Hubbert C, Biechele TL, Gingras AC, Zheng N, Maccoss MJ, Angers S, Moon RT. 2007. Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling. Science 316: 1043–1046. Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. 2010. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res 25: 82–90. Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer A, Van Hul W. 2011. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. Clin Genet 80: 383–388. Perotti D, Gamba B, Sardella M, Spreafico F, Terenziani M, Collini P, Pession A, Nantron M, Fossati-Bellani F, Radice P. 2008. Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors. Oncogene 27: 4625–4632. Citing Literature Volume161, Issue5May 2013Pages 1173-1176 ReferencesRelatedInformation
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