Original Paper

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities†

  1. Kasmintan A Schrader1,2,‡,
  2. Alireza Heravi-Moussavi3,‡,
  3. Paula J Waters4,
  4. Janine Senz1,
  5. James Whelan5,
  6. Gavin Ha3,
  7. Patrice Eydoux4,
  8. Torsten Nielsen6,
  9. Barry Gallagher7,
  10. Arusha Oloumi3,
  11. Niki Boyd3,
  12. Bridget A Fernandez8,
  13. Terry-Lynn Young8,
  14. Steven JM Jones3,
  15. Martin Hirst3,
  16. Sohrab P Shah3,
  17. Marco A Marra3,
  18. Jane Green5,8,
  19. David G Huntsman1,‡,*

Article first published online: 25 JUL 2011

DOI: 10.1002/path.2941

Issue

The Journal of Pathology

The Journal of Pathology

Volume 225, Issue 1, pages 12–18, September 2011

Additional Information

How to Cite

Schrader, K. A., Heravi-Moussavi, A., Waters, P. J., Senz, J., Whelan, J., Ha, G., Eydoux, P., Nielsen, T., Gallagher, B., Oloumi, A., Boyd, N., Fernandez, B. A., Young, T.-L., Jones, S. J., Hirst, M., Shah, S. P., Marra, M. A., Green, J. and Huntsman, D. G. (2011), Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J. Pathol., 225: 12–18. doi: 10.1002/path.2941

Author Information

  1. 1

    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada

  2. 2

    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

  3. 3

    BC Cancer Agency, Vancouver, BC, Canada

  4. 4

    Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada

  5. 5

    Department of Ophthalmology, Memorial University of Newfoundland, St. John's, NL, Canada

  6. 6

    Department of Anatomical Pathology, Vancouver Hospital and Health Sciences Centre, Vancouver, BC, Canada

  7. 7

    Department of Pathology, James Paton Memorial Regional Health Centre, Gander, NL Canada

  8. 8

    Discipline of Genetics, Memorial University of Newfoundland, St. John's, NL Canada

  1. ‡

    These authors contributed equally to this study.

*Centre for Translational and Applied Genomics, Room 3427, BC Cancer Agency, 600 W 10th Avenue, Vancouver, BC, Canada.

  1. †

    No conflicts of interest were declared.

  2. ‡

    These authors contributed equally to this study.

Publication History

  1. Issue published online: 25 JUL 2011
  2. Article first published online: 25 JUL 2011
  3. Accepted manuscript online: 24 MAY 2011 03:13AM EST
  4. Manuscript Accepted: 18 MAY 2011
  5. Manuscript Revised: 17 MAY 2011
  6. Manuscript Received: 25 APR 2011

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Keywords:

  • spondyloepiphyseal dysplasia;
  • retinitis pigmentosa;
  • mucolipidosis type III;
  • exome;
  • GNPTG;
  • next-generation sequencing;
  • familial

Abstract

Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type IIIγ. The diagnosis was confirmed by biochemical studies and both broadens the mucolipidosis type III phenotype and demonstrates the clinical utility of next-generation sequencing to diagnose rare genetic diseases. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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