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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
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, 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
Revised: February 10, 2014
Accepted: February 16, 2014
Published online: May 27, 2014
Core Tip
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.