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Using next-generation sequencing for the diagnosis of rare disorders : a family with retinitis pigmentosa and skeletal abnormalities Schrader, Kasmintan; Heravi-Moussavi, Alireza; Waters, Paula J.; Senz, Janine; Whelan, James; Eydoux, Patrice; Nielsen, Torsten; Gallagher, Barry; Oloumi, Arusha; Boyd, Niki; Fernandez, Bridget A.; Young, Terry-Lynn; Jones, Steven J. M.; Hirst, Martin; Shah, Sohrab P.; Marra, Marco, 1966-; Green, Jane

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 nextgeneration sequencing to diagnose rare genetic diseases.

Item Metadata

Title
Using next-generation sequencing for the diagnosis of rare disorders : a family with retinitis pigmentosa and skeletal abnormalities
Alternate Title
Next-generation sequencing for diagnosis of rare familial disorders
Creator
Schrader, Kasmintan; Heravi-Moussavi, Alireza; Waters, Paula J.; Senz, Janine; Whelan, James; Eydoux, Patrice; Nielsen, Torsten; Gallagher, Barry; Oloumi, Arusha; Boyd, Niki; Fernandez, Bridget A.; Young, Terry-Lynn; Jones, Steven J. M.; Hirst, Martin; Shah, Sohrab P.; Marra, Marco, 1966-; Green, Jane
Contributor
Children's Hospital (Vancouver, B.C.); Vancouver Hospital and Health Sciences Centre
Publisher
Wiley
Date Issued
2011-09
Description
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 nextgeneration sequencing to diagnose rare genetic diseases.
Subject
spondyloepiphyseal dysplasia; retinitis pigmentosa; mucolipidosis type III; exome; GNPTG; next-generation sequencing; familial
Genre
Article; Postprint
Type
Text
Language
eng
Date Available
2021-06-21
Provider
Vancouver : University of British Columbia Library
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International
DOI
10.14288/1.0398484
URI
http://hdl.handle.net/2429/78745
Affiliation
Medicine, Faculty of; Non UBC; Medical Genetics, Department of; Pathology and Laboratory Medicine, Department of
Citation
Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol. 2011 Sep;225(1):12-8
Publisher DOI
10.1002/path.2941
Peer Review Status
Reviewed
Scholarly Level
Faculty; Researcher; Graduate
Rights URI
http://creativecommons.org/licenses/by-nc-nd/4.0/
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Attribution-NonCommercial-NoDerivatives 4.0 International