19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

  1. AM Lehman1,2,3,
  2. C du Souich1,2,3,
  3. D Chai4,
  4. P Eydoux4,
  5. JL Huang1,3,
  6. AK Fok1,3,5,
  7. L Avila1,3,5,
  8. J Swingland6,
  9. AD Delaney7,
  10. B McGillivray1,3,
  11. D Goldowitz1,3,5,
  12. B Argiropoulos8,
  13. MS Kobor1,3,5,
  14. CF Boerkoel1,2,3,*

Article first published online: 19 JAN 2011

DOI: 10.1111/j.1399-0004.2010.01615.x

Issue

Clinical Genetics

Clinical Genetics

Volume 81, Issue 1, pages 56–63, January 2012

Additional Information

How to Cite

Lehman, A., du Souich, C., Chai, D., Eydoux, P., Huang, J., Fok, A., Avila, L., Swingland, J., Delaney, A., McGillivray, B., Goldowitz, D., Argiropoulos, B., Kobor, M. and Boerkoel, C. (2012), 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clinical Genetics, 81: 56–63. doi: 10.1111/j.1399-0004.2010.01615.x

Author Information

  1. 1

    Department of Medical Genetics, University of British Columbia

  2. 2

    Rare Disease Foundation

  3. 3

    Child and Family Research Institute, University of British Columbia

  4. 4

    Department of Pathology, University of British Columbia

  5. 5

    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada

  6. 6

    MRC Clinical Sciences Centre, Imperial College London, London, United Kingdom

  7. 7

    Genome Sciences Centre, University of British Columbia, Vancouver, Canada

  8. 8

    Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada

*Dr Cornelius Boerkoel, Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, University of British Columbia, V6H3N1 Vancouver, Canada. Tel.: +1 604 875 2157; fax: +1 604 875 2376; e-mail: nboerkoel@cfri.ca

Publication History

  1. Issue published online: 12 DEC 2011
  2. Article first published online: 19 JAN 2011
  3. Accepted manuscript online: 13 DEC 2010 07:36AM EST
  4. Received 13 September 2010, revised and accepted for publication 9 December 2010

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Supporting Information

The following Supporting information is available for this article:

Table S1. Primer sequences

Table S2. Genes from the duplicated 19p13.2 region previously described in the Database of Genomic Variants as deleted or duplicated in the general population

Table S3. Fold difference in the expression of duplicated 19p13.2 genes in two affected individuals compared to controls (Student's t-test)

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