Cattaneo E, Ciceri S, Liberati N, Radice P, Tarani L, Selicorni A, Perotti D. Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene. World J Med Genet 2014; 4(2): 34-38 [DOI: 10.5496/wjmg.v4.i2.34]
Corresponding Author of This Article
Daniela Perotti, PhD, Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian, 1, 20133 Milano, Italy. daniela.perotti@istitutotumori.mi.it
Research Domain of This Article
Pediatrics
Article-Type of This Article
Minireviews
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World J Med Genet. May 27, 2014; 4(2): 34-38 Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.34
Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene
Elisa Cattaneo, Sara Ciceri, Natascia Liberati, Paolo Radice, Luigi Tarani, Angelo Selicorni, Daniela Perotti
Elisa Cattaneo, Angelo Selicorni, UOS, Pediatric Genetic Unit, Pediatric Department, MBBM Foundation, S Gerardo Hospital, 20900 Monza, Italy
Sara Ciceri, Paolo Radice, Daniela Perotti, Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milano, Italy
Natascia Liberati, Luigi Tarani, Department of Pediatrics, Policlinico Umberto I, Sapienza University, 00186 Roma, Italy
Author contributions: Cattaneo E, Ciceri S and Liberati N contributed equally to this work, they wrote the draft of the manuscript, developing the themes and the structure; Radice P, Tarani L, Selicorni A and Perotti D contributed equally to this work, they edited, wrote some sections and advised on the content.
Supported by Associazione Bianca Garavaglia, 21052 Busto Arsizio, Varese, Italy; Italian Association for Cancer Research (AIRC); Fondazione Pierfranco e Luisa Mariani, 20129 Milano, Italy
Correspondence to: Daniela Perotti, PhD, Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian, 1, 20133 Milano, Italy. daniela.perotti@istitutotumori.mi.it
Telephone: +39-02-23902644 Fax: +39-02-23903073
Received: October 29, 2013 Revised: February 10, 2014 Accepted: February 16, 2014 Published online: May 27, 2014
Abstract
Osteopathia striata with cranial sclerosis (OSCS, OMIM#300373) is an X-linked dominant sclerosing bone dysplasia that shows a distinct phenotype in females and males. In 2009, Zandra Jenkins et al found that germline mutations in the FAM123B/WTX/AMER1 gene, mapped to chromosome Xq11.2, cause both the familial and sporadic forms of OSCS. Intriguingly, the WTX gene was already known as a putative tumor suppressor gene, since in 2007 Rivera et al had reported inactivating WTX mutations in Wilms’ tumor (WT), the most frequent renal tumor of childhood. Here we review the heterogeneous clinical presentation of OSCS patients and the involvement of WTX anomalies in OSCS and in WT.
Core tip: Osteopathia striata with cranial sclerosis (OSCS), a condition often benign in females and severe and lethal in males, has a clinically heterogeneous presentation. Germline anomalies affecting the WTX gene, mapped to chromosome X, are causative of OSCS. Despite WTX mutations in Wilms’ tumor (WT) that closely mirror those identified in OSCS patients, individuals with OSCS do not develop WT. This is in contrast with other syndromic conditions, in which germline mutations or epimutations, also found as somatic events in sporadic WTs, predispose to WT development.
