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

2011; Volume: 225; Issue: 1 Linguagem: Inglês

10.1002/path.2941

1096-9896

Kasmintan A. Schrader, Alireza Heravi‐Moussavi, Paula J. Waters, Janine Senz, James Whelan, Gavin Ha, Patrice Eydoux, Torsten O. Nielsen, Barry Gallagher, Arusha Oloumi, Niki Boyd, Bridget A. Fernandez, Terry‐Lynn Young, Steven J.M. Jones, Martin Hirst, Sohrab P. Shah, Marco A. Marra, Jane Green, David G. Huntsman,

Retinal Development and Disorders

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.