학술논문
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
Document Type
Academic Journal
Author
Schrader, Kasmintan A; Heravi-Moussavi, Alireza; Waters, Paula J; Senz, Janine; Whelan, James; Ha, Gavin; Eydoux, Patrice; Nielsen, Torsten; Gallagher, Barry; Oloumi, Arusha; Boyd, Niki; Fernandez, Bridget A; Young, Terry-Lynn; Jones, Steven JM; Hirst, Martin; Shah, Sohrab P; Marra, Marco A; Green, Jane; Huntsman, David G
Source
The Journal of Pathology. Sep 01, 2011 225(1):12-18
Subject
Language
English
ISSN
0022-3417
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.