Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway

Authors

  • Dorothy K. Grange,

    Corresponding author
    1. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri
    • Division of Genetics and Genomic Medicine, Department of Pediatrics, Campus Box 8116, 660 South Euclid Ave., Washington University School of Medicine, St. Louis, MO 63110.
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  • Carol L. Clericuzio,

    1. Division of Clinical Genetics/Dysmorphology, University of New Mexico, Albuquerque, New Mexico
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  • Susan J. Bayliss,

    1. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri
    2. Department of Internal Medicine (Dermatology), Washington University School of Medicine, St. Louis, Missouri
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  • David R. Berk,

    1. Department of Internal Medicine (Dermatology), Washington University School of Medicine, St. Louis, Missouri
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  • Richard L. Heideman,

    1. Division of Hematology Oncology, Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico
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  • Julie K. Higginson,

    1. Department of Pathology, Washington University School of Medicine, St. Louis, Missouri
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  • Stephanie Julian,

    1. Division of Clinical Genetics/Dysmorphology, University of New Mexico, Albuquerque, New Mexico
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  • Anne Lind

    1. Department of Pathology, Washington University School of Medicine, St. Louis, Missouri
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  • How to cite this article: Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A. 2008. Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet Part A 146A:2589–2597.

Abstract

Curry–Jones syndrome (OMIM #601707) is a rare multiple malformation disorder of unknown etiology, associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. We report on two new cases of Curry–Jones syndrome with previously unreported features, including benign and malignant neoplasms. The first patient had typical features of Curry–Jones syndrome as well as multiple intra-abdominal smooth muscle hamartomas and trichoblastoma of the skin. The second patient was born with occipital meningoceles and developed a desmoplastic medulloblastoma. Routine lymphocyte karyotype, GLI3 gene analysis and Patched (PTCH) gene analysis on both patients and chromosome microarray analysis on the first patient were normal. We review the previously reported cases of Curry–Jones syndrome and compare our patients' findings. In view of the association of trichoblastoma with basal cell carcinoma and desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (NBCCS) and PTCH mutations, we hypothesize that Curry–Jones syndrome is caused by malfunction of an element in the sonic hedgehog pathway. © 2008 Wiley-Liss, Inc.

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