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Osteopathia striata with cranial sclerosis owing to WTX gene defect

  1. Bram Perdu1,
  2. Fenna de Freitas1,
  3. Suzanne GM Frints2,3,
  4. Meyke Schouten2,
  5. Connie Schrander-Stumpel2,3,
  6. Mafalda Barbosa4,
  7. Jorge Pinto-Basto5,
  8. Margarida Reis-Lima4,
  9. Marie-Christine de Vernejoul6,
  10. Kristin Becker7,
  11. Marie-Louise Freckmann8,
  12. Kathlijn Keymolen9,
  13. Eric Haan10,
  14. Ravi Savarirayan11,
  15. Rainer Koenig12,
  16. Bernhard Zabel13,
  17. Filip M Vanhoenacker14,
  18. Wim Van Hul1,*

Article first published online: 18 DEC 2009

DOI: 10.1359/jbmr.090707

Issue

Journal of Bone and Mineral Research

Journal of Bone and Mineral Research

Volume 25, Issue 1, pages 82–90, January 2010

Additional Information

How to Cite

Perdu, B., Freitas, F. d., Frints, S. G., Schouten, M., Schrander-Stumpel, C., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., Vernejoul, M.-C. d., Becker, K., Freckmann, M.-L., Keymolen, K., Haan, E., Savarirayan, R., Koenig, R., Zabel, B., Vanhoenacker, F. M. and Hul, W. V. (2010), Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res, 25: 82–90. doi: 10.1359/jbmr.090707

Author Information

  1. 1

    Department of Medical Genetics, University and University Hospital of Antwerp, 2610 Antwerp, Belgium

  2. 2

    Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands

  3. 3

    Research School of Oncology and Developmental Biology, GROW, University of Maastricht, 6200 MD Maastricht, The Netherlands

  4. 4

    Unidade de Consulta, Centro de Genética Médica Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saude Dr. Ricardo Jorge, 4000-404 Porto, Portugal

  5. 5

    Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, 4150-180 Porto, Portugal

  6. 6

    INSERM U606 and University of Paris 7, Rheumatology Department, Hospital Lariboisière, Assistance Publique Hôpitaux de Paris, 75010 Paris, France

  7. 7

    North Wales Clinical Genetics Service, Glan Clwyd Hospital, Bodelwyddan Rhyl, LL18 5UJ Denbighshire, United Kingdom

  8. 8

    Department of Medical Genetics, Sydney Children's Hospital, 2013 Randwick, New South Wales, Australia

  9. 9

    Medische Genetica UZ Brussels, Vrije Universiteit Brussels, 1000 Brussels, Belgium

  10. 10

    SA Pathology, Women's and Children's Hospital Site, North Adelaide SA 5006 and Department of Paediatrics, University of Adelaide, Adelaide SA 5000, Australia

  11. 11

    Genetic Health Services Victoria, Royal Children's Hospital Clinical Genetics Units, 3052 Parkville, Australia

  12. 12

    Institute of Human Genetics Frankfurt, Children's Hospital at 55131 Mainz and 97080 Würzburg, Germany

  13. 13

    Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, 79106 Freiburg, Germany

  14. 14

    Department of Radiology, University Hospital of Antwerp, 2610 Antwerp, Belgium

*Department of Medical Genetics, University of Antwerp, Belgium.

Publication History

  1. Issue published online: 20 JAN 2010
  2. Article first published online: 18 DEC 2009
  3. Manuscript Accepted: 1 JUL 2009
  4. Manuscript Revised: 4 JUN 2009
  5. Manuscript Received: 8 APR 2009

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References

  • 1
    Janssens K, Van Hul W. Molecular genetics of too much bone. Hum Mol Genet. 2002; 11: 2385–2393.
  • 2
    Voorhoeve N. L'image radiologique non encore décrite d'une anomalie du squelette. Acta Radiol. 1924; 3: 407.
  • 3
    Hurt RL. Osteopathia striata-Voorhoeve's disease: report of a case presenting the features of osteopathia striata and osteopetrosis. J Bone Joint Surg. 1953; 35B: 89–96.
  • 4
    Jenkins ZA, van Kogelenberg M, Morgan T, et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. 2009; 41: 95–100.
  • 5
    Pellegrino JE, McDonald-McGinn DM, Schneider A, Markowitz RI, Zackai EH. Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? Am J Med Genet. 1997; 70: 159–165.
    Direct Link:
  • 6
    Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M. Severe malformations in males from families with osteopathia striata with cranial sclerosis. Clin Genet. 1998; 54: 400–405.
  • 7
    Rott HD, Krieg P, Rutschle H, Kraus C. Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). Genet Couns. 2003; 14: 281–288.
  • 8
    Klaus A, Birchmeier W. WNT signalling and its impact on development and cancer. Nat Rev Cancer. 2008; 8: 387–398.
  • 9
    Van Wesenbeeck L, Cleiren E, Gram J, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003; 72: 763–771.
  • 10
    Balemans W, Ebeling M, Patel N, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet. 2001; 10: 537–543.
  • 11
    Ruteshouser EC, Robinson SM, Huff V. Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes Cancer. 2008; 47: 461–470.
    Direct Link:
  • 12
    Perotti D, Gamba B, Sardella M, et al. Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors. Oncogene. 2008; 27: 4625–4632.
  • 13
    Owen C, Virappane P, Alikian M, et al. WTX is rarely mutated in acute myeloid leukemia. Haematologica. 2008; 93: 947–948.
  • 14
    Yoo NJ, Kim S, Lee SH. Mutational analysis of WTX gene in WNT/beta-catenin pathway in gastric, colorectal, and hepatocellular carcinomas. Dig Dis Sci. 2008; 54: 1011–1014.
  • 15
    Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30: 57.
  • 16
    Keymolen K, Bonduelle M, De Maeseneer M, Liebaers I. How to counsel in osteopathia striata with cranial sclerosis. Genet Couns. 1997; 8: 207–211.
  • 17
    Savarirayan R, Nance J, Morris L, Haan E, Couper R. Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. Clin Genet. 1997; 52: 199–205.
  • 18
    Konig R, Dukiet C, Dorries A, Zabel B, Fuchs S. Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. Am J Med Genet. 1996; 63: 68–73.
    Direct Link:
  • 19
    Moon RT, Kohn AD, De Ferrari GV, Kaykas A. WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet. 2004; 5: 691–701.
  • 20
    Major MB, Camp ND, Berndt JD, et al. Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling. Science. 2007; 316: 1043–1046.
  • 21
    Logan CY, Nusse R. The WNT signaling pathway in development and disease. Annu Rev Cell Dev Biol. 2004; 20: 781–810.
  • 22
    Willert K, Jones KA. WNT signaling: is the party in the nucleus? Genes Dev. 2006; 20: 1394–1404.
  • 23
    Viot G, Lacombe D, David A, et al. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet. 2002; 107: 1–4.
    Direct Link:
  • 24
    Kraus C, Konig R, Rott HD. Comments on “Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. ” Am J Med Genet.2003;119A: 400.
  • 25
    Tzahor E. WNT/beta-catenin signaling and cardiogenesis: timing does matter. Dev Cell. 2007; 13: 10–13.
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