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Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2§

Authors

  • Sébastien Chénier,

    1. The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada
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  • Abdul Noor,

    1. The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada
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  • Lucie Dupuis,

    1. The Hospital for Sick Children, Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada
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  • Dimitri J Stavropoulos,

    1. The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada
    2. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
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  • Roberto Mendoza-Londono

    Corresponding author
    1. The Hospital for Sick Children, Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada
    • Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, ON, Canada M5G 1X8.
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  • How to Cite this Article: Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R. 2012. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. Am J Med Genet Part A 158A: 2946–2952.

  • Sébastien Chénier and Abdul Noor contributed equally to this report.

  • §

    The authors have no conflicts of interest to declare.

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by mutations involving WTX (FAM123B), a tumor suppressor protein with dual functions. OSCS typically affects females whereas males generally have fetal or neonatal lethality. Surviving affected males have characteristic facial dysmorphisms, skeletal features such as macrocephaly and short stature, neurodevelopmental disabilities and a high prevalence of neuromuscular anomalies. On imaging, hemizygous males display marked cranial and peripheral skeletal sclerosis without the metaphyseal striations that are seen in women with OSCS. Observations of striation in males may be indicative of a somatic mosaic mutation in WTX. To date only two cases of surviving males haves been confirmed with mosaic point mutations in WTX. We report on the first case of a male with a mosaic deletion of the entire WTX gene. We show that a mosaic deletion in a hemizygous male patient can cause a mild phenotype of OSCS, including facial and skull base bone striations, nasal stenosis, conductive hearing loss, global developmental delay, and mild facial dysmorphology without short stature or macrocephaly. © 2012 Wiley Periodicals, Inc.

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