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The male phenotype in osteopathia striata congenita with cranial sclerosis

2011; Wiley; Volume: 155; Issue: 10 Linguagem: Inglês

10.1002/ajmg.a.34178

1552-4833

Sarah K. Holman, Phil Daniel, Zandra A. Jenkins, Rachel L. Herron, Tim Morgan, Ravi Savarirayan, C.W. Chow, Axel Bohring, Annette Mosel, Didier Lacombe, Bernhard Steiner, Thomas Schmitt‐Mechelke, Barbara Schröter, Annick Raas‐Rothschild, Sixto Garcia Miñaur, Mary Porteous, Michael Parker, Oliver Quarrell, Dagmar Tapon, Valérie Cormier‐Daire, Sahar Mansour, Ruth Nash, Laurence A. Bindoff, Torunn Fiskerstrand, Stephen P. Robertson,

Wnt/β-catenin signaling in development and cancer

Abstract Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX . Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre‐ and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage. © 2011 Wiley‐Liss, Inc.