| First Author | Schrader KA | Year | 2011 |
| Journal | J Pathol | Volume | 225 |
| Issue | 1 | Pages | 12-8 |
| PubMed ID | 21792934 | Mgi Jnum | J:175617 |
| Mgi Id | MGI:5286772 | Doi | 10.1002/path.2941 |
| Citation | Schrader KA, et al. (2011) Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol 225(1):12-8 |
| abstractText | 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 IIIgamma. 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. |
