These authors contributed equally to this study.
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities†
Article first published online: 25 JUL 2011
Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The Journal of Pathology
Volume 225, Issue 1, pages 12–18, September 2011
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
No conflicts of interest were declared.
- Issue published online: 25 JUL 2011
- Article first published online: 25 JUL 2011
- Accepted manuscript online: 24 MAY 2011 03:13AM EST
- Manuscript Accepted: 18 MAY 2011
- Manuscript Revised: 17 MAY 2011
- Manuscript Received: 25 APR 2011
- spondyloepiphyseal dysplasia;
- retinitis pigmentosa;
- mucolipidosis type III;
- next-generation sequencing;
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.